21-46363693-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46363693
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46363693
    reference: chr 21
allele count: 1
allele frequency: 8.252323028932645e-6
allele num: 121178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000404964
  ensembl transcript: ENST00000458015
  gene symbol: FAM207A
  hgvsc: ENST00000458015.1:c.224C>T
  hgvsp: ENSP00000404964.1:p.Thr75Ile
  variant of: http://identifiers.org/hgnc/15811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000380926
  ensembl transcript: ENST00000397826
  gene symbol: FAM207A
  hgvsc: ENST00000397826.3:c.224C>T
  hgvsp: ENSP00000380926.3:p.Thr75Ile
  variant of: http://identifiers.org/hgnc/15811
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000291634
  ensembl transcript: ENST00000291634
  gene symbol: FAM207A
  hgvsc: ENST00000291634.6:c.224C>T
  hgvsp: ENSP00000291634.6:p.Thr75Ile
  variant of: http://identifiers.org/hgnc/15811
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11204
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2563
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35198
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3134
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9377
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3815
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr75Ile
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

21-46363694-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46363694
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46363694
    reference: chr 21
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000380926
  ensembl transcript: ENST00000397826
  gene symbol: FAM207A
  hgvsc: ENST00000397826.3:c.225T>G
  hgvsp: ENST00000397826.3:c.225T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15811
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000291634
  ensembl transcript: ENST00000291634
  gene symbol: FAM207A
  hgvsc: ENST00000291634.6:c.225T>G
  hgvsp: ENST00000291634.6:c.225T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000404964
  ensembl transcript: ENST00000458015
  gene symbol: FAM207A
  hgvsc: ENST00000458015.1:c.225T>G
  hgvsp: ENST00000458015.1:c.225T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15811
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26828
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35206
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9373
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3132
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4062
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3815
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr75Thr
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

21-46363697-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46363697
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46363697
    reference: chr 21
allele count: 1
allele frequency: 8.25300409349003e-6
allele num: 121168
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000404964
  ensembl transcript: ENST00000458015
  gene symbol: FAM207A
  hgvsc: ENST00000458015.1:c.228C>T
  hgvsp: ENST00000458015.1:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15811
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000291634
  ensembl transcript: ENST00000291634
  gene symbol: FAM207A
  hgvsc: ENST00000291634.6:c.228C>T
  hgvsp: ENST00000291634.6:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000380926
  ensembl transcript: ENST00000397826
  gene symbol: FAM207A
  hgvsc: ENST00000397826.3:c.228C>T
  hgvsp: ENST00000397826.3:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15811
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11201
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35196
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3127
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9370
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 4057
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3812
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2560
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser76Ser
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

21-46363698-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46363698
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46363698
    reference: chr 21
allele count: 6
allele frequency: 4.952701698776683e-5
allele num: 121146
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000404964
  ensembl transcript: ENST00000458015
  gene symbol: FAM207A
  hgvsc: ENST00000458015.1:c.229G>A
  hgvsp: ENSP00000404964.1:p.Val77Ile
  variant of: http://identifiers.org/hgnc/15811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000380926
  ensembl transcript: ENST00000397826
  gene symbol: FAM207A
  hgvsc: ENST00000397826.3:c.229G>A
  hgvsp: ENSP00000380926.3:p.Val77Ile
  variant of: http://identifiers.org/hgnc/15811
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000291634
  ensembl transcript: ENST00000291634
  gene symbol: FAM207A
  hgvsc: ENST00000291634.6:c.229G>A
  hgvsp: ENSP00000291634.6:p.Val77Ile
  variant of: http://identifiers.org/hgnc/15811
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4046
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9357
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35147
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3123
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3872
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2558
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val77Ile
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

21-46363698-GTCAGGAGAGGTGAGGCAGGCTCGAGTGCACGGAGCGTCCCTTCCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46363698
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46363653
    reference: chr 21
allele count: 94
allele frequency: 7.759232661416803e-4
allele num: 121146
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000404964
  ensembl transcript: ENST00000458015
  gene symbol: FAM207A
  variant of: http://identifiers.org/hgnc/15811
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000291634
  ensembl transcript: ENST00000291634
  gene symbol: FAM207A
  variant of: http://identifiers.org/hgnc/15811
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000380926
  ensembl transcript: ENST00000397826
  gene symbol: FAM207A
  variant of: http://identifiers.org/hgnc/15811
canonical: false
consequence: splice donor
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 11162
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 26804
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13466
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35147
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2558
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4046
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3123
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9357
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3872
  bin: 9.75e1
  variant carriers: 94
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: GTCAGGAGAGGTGAGGCAGGCTCGAGTGCACGGAGCGTCCCTTCCA
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

21-46363707-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46363707
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46363707
    reference: chr 21
allele count: 1
allele frequency: 8.261868173631421e-6
allele num: 121038
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000404964
  ensembl transcript: ENST00000458015
  gene symbol: FAM207A
  hgvsc: ENST00000458015.1:c.238G>A
  hgvsp: ENSP00000404964.1:p.Gly80Ser
  variant of: http://identifiers.org/hgnc/15811
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000291634
  ensembl transcript: ENST00000291634
  gene symbol: FAM207A
  hgvsc: ENST00000291634.6:c.238G>A
  hgvsp: ENSP00000291634.6:p.Gly80Ser
  variant of: http://identifiers.org/hgnc/15811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000380926
  ensembl transcript: ENST00000397826
  gene symbol: FAM207A
  hgvsc: ENST00000397826.3:c.238G>A
  hgvsp: ENSP00000380926.3:p.Gly80Ser
  variant of: http://identifiers.org/hgnc/15811
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26778
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2558
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4043
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3811
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35136
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3109
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly80Ser
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: G
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

21-46363710-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46363710
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46363710
    reference: chr 21
allele count: 5
allele frequency: 4.131753350851967e-5
allele num: 121014
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000380926
  ensembl transcript: ENST00000397826
  gene symbol: FAM207A
  hgvsc: ENST00000397826.3:c.238+3G>A
  variant of: http://identifiers.org/hgnc/15811
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000291634
  ensembl transcript: ENST00000291634
  gene symbol: FAM207A
  hgvsc: ENST00000291634.6:c.241G>A
  hgvsp: ENSP00000291634.6:p.Glu81Lys
  variant of: http://identifiers.org/hgnc/15811
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000404964
  ensembl transcript: ENST00000458015
  gene symbol: FAM207A
  hgvsc: ENST00000458015.1:c.238+3G>A
  variant of: http://identifiers.org/hgnc/15811
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26767
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9338
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2560
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4041
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35133
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3803
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3106
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu81Lys
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum

21-46363717-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46363717
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46363717
    reference: chr 21
allele count: 1
allele frequency: 8.268289456277286e-6
allele num: 120944
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000380926
  ensembl transcript: ENST00000397826
  gene symbol: FAM207A
  hgvsc: ENST00000397826.3:c.238+10G>A
  variant of: http://identifiers.org/hgnc/15811
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000291634
  ensembl transcript: ENST00000291634
  gene symbol: FAM207A
  hgvsc: ENST00000291634.6:c.248G>A
  hgvsp: ENSP00000291634.6:p.Gly83Asp
  variant of: http://identifiers.org/hgnc/15811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000404964
  ensembl transcript: ENST00000458015
  gene symbol: FAM207A
  hgvsc: ENST00000458015.1:c.238+10G>A
  variant of: http://identifiers.org/hgnc/15811
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13426
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9305
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3785
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2550
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3099
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4041
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly83Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

21-46363720-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46363720
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46363720
    reference: chr 21
allele count: 2
allele frequency: 1.654122901331569e-5
allele num: 120910
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000404964
  ensembl transcript: ENST00000458015
  gene symbol: FAM207A
  hgvsc: ENST00000458015.1:c.238+13C>T
  variant of: http://identifiers.org/hgnc/15811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000380926
  ensembl transcript: ENST00000397826
  gene symbol: FAM207A
  hgvsc: ENST00000397826.3:c.238+13C>T
  variant of: http://identifiers.org/hgnc/15811
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000291634
  ensembl transcript: ENST00000291634
  gene symbol: FAM207A
  hgvsc: ENST00000291634.6:c.251C>T
  hgvsp: ENSP00000291634.6:p.Ser84Leu
  variant of: http://identifiers.org/hgnc/15811
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3085
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35017
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9283
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2552
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4033
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3780
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ser84Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

21-46363721-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46363721
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46363721
    reference: chr 21
allele count: 14
allele frequency: 1.158652652486965e-4
allele num: 120830
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000404964
  ensembl transcript: ENST00000458015
  gene symbol: FAM207A
  hgvsc: ENST00000458015.1:c.238+14G>A
  variant of: http://identifiers.org/hgnc/15811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000380926
  ensembl transcript: ENST00000397826
  gene symbol: FAM207A
  hgvsc: ENST00000397826.3:c.238+14G>A
  variant of: http://identifiers.org/hgnc/15811
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000291634
  ensembl transcript: ENST00000291634
  gene symbol: FAM207A
  hgvsc: ENST00000291634.6:c.252G>A
  hgvsp: ENST00000291634.6:c.252G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15811
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3760
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9262
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2547
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3078
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34915
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4029
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser84Ser
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: G
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

21-46363721-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46363721
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46363721
    reference: chr 21
allele count: 3
allele frequency: 2.482827112472068e-5
allele num: 120830
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000404964
  ensembl transcript: ENST00000458015
  gene symbol: FAM207A
  hgvsc: ENST00000458015.1:c.238+14G>C
  variant of: http://identifiers.org/hgnc/15811
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000291634
  ensembl transcript: ENST00000291634
  gene symbol: FAM207A
  hgvsc: ENST00000291634.6:c.252G>C
  hgvsp: ENST00000291634.6:c.252G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000380926
  ensembl transcript: ENST00000397826
  gene symbol: FAM207A
  hgvsc: ENST00000397826.3:c.238+14G>C
  variant of: http://identifiers.org/hgnc/15811
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4357
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9262
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34915
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3760
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4029
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3078
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2547
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser84Ser
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

19-39055565-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055565
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055565
    reference: chr 19
allele count: 29
allele frequency: 1.312930097790655e-3
allele num: 22088
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.12610-34G>T
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.12610-34G>T
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.12625-34G>T
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000470927
  ensembl transcript: ENST00000594335
  gene symbol: RYR1
  hgvsc: ENST00000594335.1:c.*3335-34G>T
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24784
  bin: 7.5e0
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3644
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23055
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4937
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 19850
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3404
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 19017
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 9.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3665
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 8.25e1
  variant carriers: 2
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

19-39055573-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055573
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055573
    reference: chr 19
allele count: 1
allele frequency: 4.356159609688099e-5
allele num: 22956
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.12625-26A>G
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000470927
  ensembl transcript: ENST00000594335
  gene symbol: RYR1
  hgvsc: ENST00000594335.1:c.*3335-26A>G
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.12610-26A>G
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.12610-26A>G
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27130
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20605
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3093
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1526
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4157
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18439
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3793
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP

19-39055584-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055584
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055584
    reference: chr 19
allele count: 1
allele frequency: 4.123031252576895e-5
allele num: 24254
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.12610-15C>T
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.12610-15C>T
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.12625-15C>T
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000470927
  ensembl transcript: ENST00000594335
  gene symbol: RYR1
  hgvsc: ENST00000594335.1:c.*3335-15C>T
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17779
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3355
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2922
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4431
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24715
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16301
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum

21-46363724-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46363724
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46363724
    reference: chr 21
allele count: 1
allele frequency: 8.27787159365584e-6
allele num: 120804
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000380926
  ensembl transcript: ENST00000397826
  gene symbol: FAM207A
  hgvsc: ENST00000397826.3:c.238+17T>C
  variant of: http://identifiers.org/hgnc/15811
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000291634
  ensembl transcript: ENST00000291634
  gene symbol: FAM207A
  hgvsc: ENST00000291634.6:c.255T>C
  hgvsp: ENST00000291634.6:c.255T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000404964
  ensembl transcript: ENST00000458015
  gene symbol: FAM207A
  hgvsc: ENST00000458015.1:c.238+17T>C
  variant of: http://identifiers.org/hgnc/15811
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26663
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9251
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2546
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4026
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3748
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34924
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser85Ser
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: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

21-46363728-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46363728
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46363728
    reference: chr 21
allele count: 2
allele frequency: 1.655848456749238e-5
allele num: 120784
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000380926
  ensembl transcript: ENST00000397826
  gene symbol: FAM207A
  hgvsc: ENST00000397826.3:c.238+21C>T
  variant of: http://identifiers.org/hgnc/15811
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000291634
  ensembl transcript: ENST00000291634
  gene symbol: FAM207A
  hgvsc: ENST00000291634.6:c.259C>T
  hgvsp: ENSP00000291634.6:p.Arg87Trp
  variant of: http://identifiers.org/hgnc/15811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000404964
  ensembl transcript: ENST00000458015
  gene symbol: FAM207A
  hgvsc: ENST00000458015.1:c.238+21C>T
  variant of: http://identifiers.org/hgnc/15811
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4341
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34926
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2535
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 3761
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4005
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 3058
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 9233
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg87Trp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ

21-46363728-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46363728
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46363727
    reference: chr 21
allele count: 10
allele frequency: 8.279242283746192e-5
allele num: 120784
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000404964
  ensembl transcript: ENST00000458015
  gene symbol: FAM207A
  hgvsc: ENST00000458015.1:c.238+23delG
  variant of: http://identifiers.org/hgnc/15811
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000291634
  ensembl transcript: ENST00000291634
  gene symbol: FAM207A
  hgvsc: ENST00000291634.6:c.261delG
  hgvsp: ENSP00000291634.6:p.Ser88AlafsTer21
  variant of: http://identifiers.org/hgnc/15811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000380926
  ensembl transcript: ENST00000397826
  gene symbol: FAM207A
  hgvsc: ENST00000397826.3:c.238+23delG
  variant of: http://identifiers.org/hgnc/15811
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11224
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4341
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3761
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3058
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34926
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4005
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2535
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser88AlafsTer21
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: CG
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD

21-46363729-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46363729
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46363729
    reference: chr 21
allele count: 5
allele frequency: 4.140649585106912e-5
allele num: 120754
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000380926
  ensembl transcript: ENST00000397826
  gene symbol: FAM207A
  hgvsc: ENST00000397826.3:c.238+22G>A
  variant of: http://identifiers.org/hgnc/15811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000404964
  ensembl transcript: ENST00000458015
  gene symbol: FAM207A
  hgvsc: ENST00000458015.1:c.238+22G>A
  variant of: http://identifiers.org/hgnc/15811
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000291634
  ensembl transcript: ENST00000291634
  gene symbol: FAM207A
  hgvsc: ENST00000291634.6:c.260G>A
  hgvsp: ENSP00000291634.6:p.Arg87Gln
  variant of: http://identifiers.org/hgnc/15811
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13318
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9231
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3057
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3997
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3741
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2527
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34991
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg87Gln
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

21-46363729-GGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46363729
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46363727
    reference: chr 21
allele count: 1
allele frequency: 8.281299170213822e-6
allele num: 120754
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000291634
  ensembl transcript: ENST00000291634
  gene symbol: FAM207A
  hgvsc: ENST00000291634.6:c.262_263delAG
  hgvsp: ENSP00000291634.6:p.Ser88ArgfsTer25
  variant of: http://identifiers.org/hgnc/15811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000404964
  ensembl transcript: ENST00000458015
  gene symbol: FAM207A
  hgvsc: ENST00000458015.1:c.238+24_238+25delAG
  variant of: http://identifiers.org/hgnc/15811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000380926
  ensembl transcript: ENST00000397826
  gene symbol: FAM207A
  hgvsc: ENST00000397826.3:c.238+24_238+25delAG
  variant of: http://identifiers.org/hgnc/15811
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13318
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3997
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3057
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34991
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9231
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3741
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2527
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser88ArgfsTer25
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: GGA
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

21-46363733-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46363733
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46363733
    reference: chr 21
allele count: 1
allele frequency: 8.28363154406892e-6
allele num: 120720
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000291634
  ensembl transcript: ENST00000291634
  gene symbol: FAM207A
  hgvsc: ENST00000291634.6:c.264C>T
  hgvsp: ENST00000291634.6:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000404964
  ensembl transcript: ENST00000458015
  gene symbol: FAM207A
  hgvsc: ENST00000458015.1:c.238+26C>T
  variant of: http://identifiers.org/hgnc/15811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000380926
  ensembl transcript: ENST00000397826
  gene symbol: FAM207A
  hgvsc: ENST00000397826.3:c.238+26C>T
  variant of: http://identifiers.org/hgnc/15811
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26549
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11292
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3728
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34967
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2522
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9205
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3048
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3981
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser88Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

21-46363734-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46363734
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46363734
    reference: chr 21
allele count: 24
allele frequency: 1.987873968790379e-4
allele num: 120732
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000380926
  ensembl transcript: ENST00000397826
  gene symbol: FAM207A
  hgvsc: ENST00000397826.3:c.238+27G>A
  variant of: http://identifiers.org/hgnc/15811
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000291634
  ensembl transcript: ENST00000291634
  gene symbol: FAM207A
  hgvsc: ENST00000291634.6:c.265G>A
  hgvsp: ENSP00000291634.6:p.Val89Ile
  variant of: http://identifiers.org/hgnc/15811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160256
  ensembl protein: ENSP00000404964
  ensembl transcript: ENST00000458015
  gene symbol: FAM207A
  hgvsc: ENST00000458015.1:c.238+27G>A
  variant of: http://identifiers.org/hgnc/15811
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26557
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11306
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13275
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2519
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9191
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3734
  bin: 9.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3051
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3980
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val89Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

19-39055591-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055591
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055591
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 25950
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.12610-8C>T
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000470927
  ensembl transcript: ENST00000594335
  gene symbol: RYR1
  hgvsc: ENST00000594335.1:c.*3335-8C>T
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.12610-8C>T
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.12625-8C>T
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31840
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14761
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2063
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1581
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2433
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5203
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13837
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28818
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
hgvs: c.12625-8C>T
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD

19-39055596-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055596
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055596
    reference: chr 19
allele count: 1
allele frequency: 3.644846187490888e-5
allele num: 27436
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.12610-3C>G
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000470927
  ensembl transcript: ENST00000594335
  gene symbol: RYR1
  hgvsc: ENST00000594335.1:c.*3335-3C>G
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.12610-3C>G
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.12625-3C>G
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33745
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12329
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1626
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6079
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11756
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 9.75e1
  variant carriers: 1
hgvs: c.12625-3C>G
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

19-39055603-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055603
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055603
    reference: chr 19
allele count: 7
allele frequency: 2.332711276992802e-4
allele num: 30008
alternate allele: G
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.12629A>G
  hgvsp: ENSP00000352608.2:p.Lys4210Arg
  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.12614A>G
  hgvsp: ENSP00000354254.3:p.Lys4205Arg
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000470927
  ensembl transcript: ENST00000594335
  gene symbol: RYR1
  hgvsc: ENST00000594335.1:c.*3339A>G
  variant of: http://identifiers.org/hgnc/10483
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.12614A>G
  hgvsp: ENSP00000347667.3:p.Lys4205Arg
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3884
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34658
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10267
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32980
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9861
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys4210Arg
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP

19-39055615-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055615
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055615
    reference: chr 19
allele count: 1
allele frequency: 2.994011976047904e-5
allele num: 33400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000470927
  ensembl transcript: ENST00000594335
  gene symbol: RYR1
  hgvsc: ENST00000594335.1:c.*3351G>A
  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.12626G>A
  hgvsp: ENSP00000347667.3:p.Arg4209His
  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.12641G>A
  hgvsp: ENSP00000352608.2:p.Arg4214His
  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.12626G>A
  hgvsp: ENSP00000354254.3:p.Arg4209His
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8034
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8444
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7813
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34501
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1564
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg4214His
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

19-39055616-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055616
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055616
    reference: chr 19
allele count: 1
allele frequency: 2.960682141165325e-5
allele num: 33776
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.12627C>T
  hgvsp: ENST00000355481.4:c.12627C>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.12642C>T
  hgvsp: ENST00000359596.3:c.12642C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000470927
  ensembl transcript: ENST00000594335
  gene symbol: RYR1
  hgvsc: ENST00000594335.1:c.*3352C>T
  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.12627C>T
  hgvsp: ENST00000360985.3:c.12627C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3955
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7916
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7681
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8614
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34704
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg4214Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

19-39055631-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055631
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055631
    reference: chr 19
allele count: 1
allele frequency: 2.734780944046382e-5
allele num: 36566
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.12657C>T
  hgvsp: ENST00000359596.3:c.12657C>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.12642C>T
  hgvsp: ENST00000355481.4:c.12642C>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.12642C>T
  hgvsp: ENST00000360985.3:c.12642C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000470927
  ensembl transcript: ENST00000594335
  gene symbol: RYR1
  hgvsc: ENST00000594335.1:c.*3367C>T
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34904
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4354
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6831
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6576
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9152
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6729
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34672
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1757
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asp4219Asp
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

19-39055635-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055635
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055635
    reference: chr 19
allele count: 1
allele frequency: 2.700804839842273e-5
allele num: 37026
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000470927
  ensembl transcript: ENST00000594335
  gene symbol: RYR1
  hgvsc: ENST00000594335.1:c.*3371G>A
  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.12646G>A
  hgvsp: ENSP00000347667.3:p.Val4216Met
  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.12646G>A
  hgvsp: ENSP00000354254.3:p.Val4216Met
  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.12661G>A
  hgvsp: ENSP00000352608.2:p.Val4221Met
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6861
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4510
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6480
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34723
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1890
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6793
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1784
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34562
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val4221Met
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum

19-39055635-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055635
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055635
    reference: chr 19
allele count: 1
allele frequency: 2.700804839842273e-5
allele num: 37026
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.12646G>C
  hgvsp: ENSP00000347667.3:p.Val4216Leu
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000470927
  ensembl transcript: ENST00000594335
  gene symbol: RYR1
  hgvsc: ENST00000594335.1:c.*3371G>C
  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.12661G>C
  hgvsp: ENSP00000352608.2:p.Val4221Leu
  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.12646G>C
  hgvsp: ENSP00000354254.3:p.Val4216Leu
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34723
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6861
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4510
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6480
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6793
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34562
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8976
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1890
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val4221Leu
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

19-39055640-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055640
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055640
    reference: chr 19
allele count: 2
allele frequency: 5.383580080753701e-5
allele num: 37150
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.12651C>T
  hgvsp: ENST00000360985.3:c.12651C>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.12666C>T
  hgvsp: ENST00000359596.3:c.12666C>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.12651C>T
  hgvsp: ENST00000355481.4:c.12651C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000470927
  ensembl transcript: ENST00000594335
  gene symbol: RYR1
  hgvsc: ENST00000594335.1:c.*3376C>T
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7081
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4809
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34286
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2150
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7024
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8465
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1765
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn4222Asn
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

19-39055641-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055641
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055641
    reference: chr 19
allele count: 1
allele frequency: 2.674082789603166e-5
allele num: 37396
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.12652G>C
  hgvsp: ENSP00000354254.3:p.Glu4218Gln
  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.12652G>C
  hgvsp: ENSP00000347667.3:p.Glu4218Gln
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000470927
  ensembl transcript: ENST00000594335
  gene symbol: RYR1
  hgvsc: ENST00000594335.1:c.*3377G>C
  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.12667G>C
  hgvsp: ENSP00000352608.2:p.Glu4223Gln
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7026
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4842
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7008
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34496
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1804
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu4223Gln
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

19-39055646-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055646
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055646
    reference: chr 19
allele count: 3
allele frequency: 8.057152065316647e-5
allele num: 37234
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.12657C>T
  hgvsp: ENST00000360985.3:c.12657C>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.12657C>T
  hgvsp: ENST00000355481.4:c.12657C>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.12672C>T
  hgvsp: ENST00000359596.3:c.12672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000470927
  ensembl transcript: ENST00000594335
  gene symbol: RYR1
  hgvsc: ENST00000594335.1:c.*3382C>T
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6997
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33644
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5421
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6199
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7156
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1705
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly4224Gly
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

19-39055662-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055662
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055662
    reference: chr 19
allele count: 1
allele frequency: 2.783189535207348e-5
allele num: 35930
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.12673A>G
  hgvsp: ENSP00000347667.3:p.Met4225Val
  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.12673A>G
  hgvsp: ENSP00000354254.3:p.Met4225Val
  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.12688A>G
  hgvsp: ENSP00000352608.2:p.Met4230Val
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000470927
  ensembl transcript: ENST00000594335
  gene symbol: RYR1
  hgvsc: ENST00000594335.1:c.*3398A>G
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6232
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9718
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33570
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9864
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7424
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met4230Val
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP

19-39055682-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055682
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055682
    reference: chr 19
allele count: 1
allele frequency: 3.217917363882096e-5
allele num: 31076
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.12708C>T
  hgvsp: ENST00000359596.3:c.12708C>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.12693C>T
  hgvsp: ENST00000360985.3:c.12693C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000470927
  ensembl transcript: ENST00000594335
  gene symbol: RYR1
  hgvsc: ENST00000594335.1:c.*3418C>T
  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.12693C>T
  hgvsp: ENST00000355481.4:c.12693C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5768
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15433
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1627
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2856
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Phe4236Phe
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD

19-39055693-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055693
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055693
    reference: chr 19
allele count: 1
allele frequency: 3.581148832545481e-5
allele num: 27924
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000470927
  ensembl transcript: ENST00000594335
  gene symbol: RYR1
  hgvsc: ENST00000594335.1:c.*3429C>G
  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.12704C>G
  hgvsp: ENSP00000354254.3:p.Thr4235Ser
  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.12704C>G
  hgvsp: ENSP00000347667.3:p.Thr4235Ser
  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.12719C>G
  hgvsp: ENSP00000352608.2:p.Thr4240Ser
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25785
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19352
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5191
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24531
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2652
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr4240Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

19-39055694-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055694
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055694
    reference: chr 19
allele count: 1
allele frequency: 3.632928867252779e-5
allele num: 27526
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.12705C>T
  hgvsp: ENST00000360985.3:c.12705C>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.12705C>T
  hgvsp: ENST00000355481.4:c.12705C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000470927
  ensembl transcript: ENST00000594335
  gene symbol: RYR1
  hgvsc: ENST00000594335.1:c.*3430C>T
  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.12720C>T
  hgvsp: ENST00000359596.3:c.12720C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25523
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19663
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2579
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19720
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5161
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1575
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24232
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr4240Thr
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

19-39055705-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055705
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055705
    reference: chr 19
allele count: 1
allele frequency: 4.185851820845542e-5
allele num: 23890
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000470927
  ensembl transcript: ENST00000594335
  gene symbol: RYR1
  hgvsc: ENST00000594335.1:c.*3441T>C
  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.12716T>C
  hgvsp: ENSP00000354254.3:p.Met4239Thr
  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.12731T>C
  hgvsp: ENSP00000352608.2:p.Met4244Thr
  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.12716T>C
  hgvsp: ENSP00000347667.3:p.Met4239Thr
  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: 1163
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23890
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23602
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1972
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20306
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4309
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2800
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Met4244Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS

19-39055712-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055712
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055712
    reference: chr 19
allele count: 1
allele frequency: 4.566210045662101e-5
allele num: 21900
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.12738C>T
  hgvsp: ENST00000359596.3:c.12738C>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.12723C>T
  hgvsp: ENST00000355481.4:c.12723C>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.12723C>T
  hgvsp: ENST00000360985.3:c.12723C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000470927
  ensembl transcript: ENST00000594335
  gene symbol: RYR1
  hgvsc: ENST00000594335.1:c.*3448C>T
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25770
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3913
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18843
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2637
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1887
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25197
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile4246Ile
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

19-39055715-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055715
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055715
    reference: chr 19
allele count: 107
allele frequency: 5.023002534973242e-3
allele num: 21302
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000470927
  ensembl transcript: ENST00000594335
  gene symbol: RYR1
  hgvsc: ENST00000594335.1:c.*3451C>T
  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.12741C>T
  hgvsp: ENST00000359596.3:c.12741C>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: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.12726C>T
  hgvsp: ENST00000360985.3:c.12726C>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.12726C>T
  hgvsp: ENST00000355481.4:c.12726C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26489
  bin: 2.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 1.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20619
  bin: 7.5e0
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 2.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 7.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 9.75e1
  variant carriers: 91
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2397
  bin: 1.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1768
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 7.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 9.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 18494
  bin: 2.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 25891
  bin: 7.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 8.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 3
hgvs: p.Ala4247Ala
num of homozygotes: 5
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

19-39055720-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055720
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055720
    reference: chr 19
allele count: 1
allele frequency: 4.929022082018927e-5
allele num: 20288
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000470927
  ensembl transcript: ENST00000594335
  gene symbol: RYR1
  hgvsc: ENST00000594335.1:c.*3456A>G
  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.12731A>G
  hgvsp: ENSP00000347667.3:p.Gln4244Arg
  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.12746A>G
  hgvsp: ENSP00000352608.2:p.Gln4249Arg
  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.12731A>G
  hgvsp: ENSP00000354254.3:p.Gln4244Arg
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18924
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2610
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16671
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27620
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3418
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln4249Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD

19-39055722-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055722
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055722
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 20144
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000470927
  ensembl transcript: ENST00000594335
  gene symbol: RYR1
  hgvsc: ENST00000594335.1:c.*3458A>T
  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.12748A>T
  hgvsp: ENSP00000352608.2:p.Ile4250Phe
  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.12733A>T
  hgvsp: ENSP00000347667.3:p.Ile4245Phe
  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.12733A>T
  hgvsp: ENSP00000354254.3:p.Ile4245Phe
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28461
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18719
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27909
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3350
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16838
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile4250Phe
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-39055724-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055724
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055724
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 19780
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.12735C>A
  hgvsp: ENST00000355481.4:c.12735C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000470927
  ensembl transcript: ENST00000594335
  gene symbol: RYR1
  hgvsc: ENST00000594335.1:c.*3460C>A
  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.12735C>A
  hgvsp: ENST00000360985.3:c.12735C>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.12750C>A
  hgvsp: ENST00000359596.3:c.12750C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28966
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18191
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16150
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2352
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28334
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3181
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1448
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile4250Ile
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

19-39055739-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055739
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055739
    reference: chr 19
allele count: 1
allele frequency: 5.734602592040372e-5
allele num: 17438
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.12750C>G
  hgvsp: ENST00000355481.4:c.12750C>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.12750C>G
  hgvsp: ENST00000360985.3:c.12750C>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.12765C>G
  hgvsp: ENST00000359596.3:c.12765C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000470927
  ensembl transcript: ENST00000594335
  gene symbol: RYR1
  hgvsc: ENST00000594335.1:c.*3475C>G
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14599
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32095
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1743
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12824
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2824
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31904
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly4255Gly
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP

19-39055740-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055740
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055740
    reference: chr 19
allele count: 2
allele frequency: 1.150086256469235e-4
allele num: 17390
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.12766G>T
  hgvsp: ENSP00000352608.2:p.Glu4256Ter
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.12751G>T
  hgvsp: ENSP00000354254.3:p.Glu4251Ter
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000470927
  ensembl transcript: ENST00000594335
  gene symbol: RYR1
  hgvsc: ENST00000594335.1:c.*3476G>T
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.12751G>T
  hgvsp: ENSP00000347667.3:p.Glu4251Ter
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32467
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2838
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12913
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32605
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu4256Ter
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

19-39055747-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055747
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055747
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 16166
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.12773A>G
  hgvsp: ENSP00000352608.2:p.Glu4258Gly
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000470927
  ensembl transcript: ENST00000594335
  gene symbol: RYR1
  hgvsc: ENST00000594335.1:c.*3483A>G
  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.12758A>G
  hgvsp: ENSP00000354254.3:p.Glu4253Gly
  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.12758A>G
  hgvsp: ENSP00000347667.3:p.Glu4253Gly
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11839
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33969
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34670
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10440
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu4258Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

19-39055750-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055750
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055750
    reference: chr 19
allele count: 1
allele frequency: 6.472491909385113e-5
allele num: 15450
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.12776C>G
  hgvsp: ENSP00000352608.2:p.Thr4259Ser
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000470927
  ensembl transcript: ENST00000594335
  gene symbol: RYR1
  hgvsc: ENST00000594335.1:c.*3486C>G
  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.12761C>G
  hgvsp: ENSP00000347667.3:p.Thr4254Ser
  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.12761C>G
  hgvsp: ENSP00000354254.3:p.Thr4254Ser
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10653
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34419
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8889
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35165
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr4259Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

19-39055751-C-CGACGAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055751
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055757
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 15140
alternate allele: CGACGAG
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsp: ENSP00000352608.2:p.Asp4262_Glu4263dup
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsp: ENSP00000354254.3:p.Asp4257_Glu4258dup
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsp: ENSP00000347667.3:p.Asp4257_Glu4258dup
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000470927
  ensembl transcript: ENST00000594335
  gene symbol: RYR1
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: inframe insertion
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34579
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10076
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35290
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8078
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2579
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp4262_Glu4263dup
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-39055751-CGACGAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055751
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055745
    reference: chr 19
allele count: 3
allele frequency: 1.981505944517834e-4
allele num: 15140
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsp: ENSP00000354254.3:p.Asp4257_Glu4258del
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsp: ENSP00000352608.2:p.Asp4262_Glu4263del
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsp: ENSP00000347667.3:p.Asp4257_Glu4258del
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000470927
  ensembl transcript: ENST00000594335
  gene symbol: RYR1
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34579
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10076
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35290
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2579
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8078
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp4262_Glu4263del
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: CGACGAG
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP

19-39055762-A-AGGGCGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055762
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055768
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 13548
alternate allele: AGGGCGC
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsp: ENSP00000354254.3:p.Gly4261_Ala4262dup
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsp: ENSP00000347667.3:p.Gly4261_Ala4262dup
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsp: ENSP00000352608.2:p.Gly4266_Ala4267dup
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000470927
  ensembl transcript: ENST00000594335
  gene symbol: RYR1
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: inframe insertion
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33937
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6785
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4796
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2489
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34560
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly4266_Ala4267dup
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

19-39055774-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055774
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055774
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 11834
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.12800C>G
  hgvsp: ENSP00000352608.2:p.Ala4267Gly
  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.12785C>G
  hgvsp: ENSP00000347667.3:p.Ala4262Gly
  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.12785C>G
  hgvsp: ENSP00000354254.3:p.Ala4262Gly
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000470927
  ensembl transcript: ENST00000594335
  gene symbol: RYR1
  hgvsc: ENST00000594335.1:c.*3510C>G
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3482
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28732
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2400
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29481
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 1
hgvs: p.Ala4267Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

19-39055777-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055777
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055777
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 11544
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.12788C>G
  hgvsp: ENSP00000347667.3:p.Ala4263Gly
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000470927
  ensembl transcript: ENST00000594335
  gene symbol: RYR1
  hgvsc: ENST00000594335.1:c.*3513C>G
  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.12788C>G
  hgvsp: ENSP00000354254.3:p.Ala4263Gly
  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.12803C>G
  hgvsp: ENSP00000352608.2:p.Ala4268Gly
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26810
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27479
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2384
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala4268Gly
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD

19-39055780-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055780
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055780
    reference: chr 19
allele count: 1
allele frequency: 8.698677800974252e-5
allele num: 11496
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.12806A>G
  hgvsp: ENSP00000352608.2:p.Glu4269Gly
  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.12791A>G
  hgvsp: ENSP00000347667.3:p.Glu4264Gly
  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.12791A>G
  hgvsp: ENSP00000354254.3:p.Glu4264Gly
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000470927
  ensembl transcript: ENST00000594335
  gene symbol: RYR1
  hgvsc: ENST00000594335.1:c.*3516A>G
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26305
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27240
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu4269Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP

19-39055783-CGGGCGCGGA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055783
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055774
    reference: chr 19
allele count: 2
allele frequency: 1.762114537444934e-4
allele num: 11350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsp: ENSP00000347667.3:p.Gly4269_Glu4271del
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsp: ENSP00000354254.3:p.Gly4269_Glu4271del
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000470927
  ensembl transcript: ENST00000594335
  gene symbol: RYR1
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsp: ENSP00000352608.2:p.Gly4274_Glu4276del
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24387
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25276
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly4274_Glu4276del
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: CGGGCGCGGA
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

19-39055786-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055786
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055786
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 10856
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.12797G>A
  hgvsp: ENSP00000347667.3:p.Gly4266Asp
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000470927
  ensembl transcript: ENST00000594335
  gene symbol: RYR1
  hgvsc: ENST00000594335.1:c.*3522G>A
  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.12812G>A
  hgvsp: ENSP00000352608.2:p.Gly4271Asp
  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.12797G>A
  hgvsp: ENSP00000354254.3:p.Gly4266Asp
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16897
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17393
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly4271Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

19-39055787-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055787
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055787
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 10844
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.12813C>T
  hgvsp: ENST00000359596.3:c.12813C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000470927
  ensembl transcript: ENST00000594335
  gene symbol: RYR1
  hgvsc: ENST00000594335.1:c.*3523C>T
  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.12798C>T
  hgvsp: ENST00000360985.3:c.12798C>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.12798C>T
  hgvsp: ENST00000355481.4:c.12798C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16913
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17369
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly4271Gly
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ

19-39055797-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055797
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055797
    reference: chr 19
allele count: 1
allele frequency: 1.030290541932825e-4
allele num: 9706
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.12823G>A
  hgvsp: ENSP00000352608.2:p.Ala4275Thr
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000470927
  ensembl transcript: ENST00000594335
  gene symbol: RYR1
  hgvsc: ENST00000594335.1:c.*3533G>A
  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.12808G>A
  hgvsp: ENSP00000347667.3:p.Ala4270Thr
  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.12808G>A
  hgvsp: ENSP00000354254.3:p.Ala4270Thr
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9588
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1647
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10212
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala4275Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

19-39055809-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055809
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055809
    reference: chr 19
allele count: 1
allele frequency: 1.644195988161789e-4
allele num: 6082
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.12835G>A
  hgvsp: ENSP00000352608.2:p.Ala4279Thr
  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.12820G>A
  hgvsp: ENSP00000354254.3:p.Ala4274Thr
  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.12820G>A
  hgvsp: ENSP00000347667.3:p.Ala4274Thr
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000470927
  ensembl transcript: ENST00000594335
  gene symbol: RYR1
  hgvsc: ENST00000594335.1:c.*3545G>A
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4432
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5793
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala4279Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

19-39055816-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055816
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055816
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 2472
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.12842G>A
  hgvsp: ENSP00000352608.2:p.Gly4281Glu
  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.12827G>A
  hgvsp: ENSP00000347667.3:p.Gly4276Glu
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000470927
  ensembl transcript: ENST00000594335
  gene symbol: RYR1
  hgvsc: ENST00000594335.1:c.*3552G>A
  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.12827G>A
  hgvsp: ENSP00000354254.3:p.Gly4276Glu
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3697
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly4281Glu
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

19-39055825-GCACGGCGGC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055825
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055816
    reference: chr 19
allele count: 1
allele frequency: 3.205128205128205e-3
allele num: 312
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsp: ENSP00000352608.2:p.Thr4288_Ala4290del
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsp: ENSP00000354254.3:p.Thr4283_Ala4285del
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsp: ENSP00000347667.3:p.Thr4283_Ala4285del
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000470927
  ensembl transcript: ENST00000594335
  gene symbol: RYR1
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr4288_Ala4290del
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: GCACGGCGGC
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ

19-39055843-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055843
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055843
    reference: chr 19
allele count: 0
allele frequency: NaN
allele num: 0
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.12854C>T
  hgvsp: ENSP00000347667.3:p.Ala4285Val
  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.12869C>T
  hgvsp: ENSP00000352608.2:p.Ala4290Val
  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.12854C>T
  hgvsp: ENSP00000354254.3:p.Ala4285Val
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000470927
  ensembl transcript: ENST00000594335
  gene symbol: RYR1
  hgvsc: ENST00000594335.1:c.*3579C>T
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala4290Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

19-39055853-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055853
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055853
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 2
alternate allele: C
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsc: ENST00000359596.3:c.12879G>C
  hgvsp: ENST00000359596.3:c.12879G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsc: ENST00000355481.4:c.12864G>C
  hgvsp: ENST00000355481.4:c.12864G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000470927
  ensembl transcript: ENST00000594335
  gene symbol: RYR1
  hgvsc: ENST00000594335.1:c.*3589G>C
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsc: ENST00000360985.3:c.12864G>C
  hgvsp: ENST00000360985.3:c.12864G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala4293Ala
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

19-39055996-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39055996
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39055996
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 40
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.13007C>T
  hgvsp: ENSP00000354254.3:p.Thr4336Met
  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.13007C>T
  hgvsp: ENSP00000347667.3:p.Thr4336Met
  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.13022C>T
  hgvsp: ENSP00000352608.2:p.Thr4341Met
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr4341Met
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-39056012-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39056012
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39056012
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 786
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.13023T>C
  hgvsp: ENST00000355481.4:c.13023T>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.13023T>C
  hgvsp: ENST00000360985.3:c.13023T>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.13038T>C
  hgvsp: ENST00000359596.3:c.13038T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2925
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala4346Ala
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

19-39056022-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39056022
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39056022
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 2342
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.13048G>A
  hgvsp: ENSP00000352608.2:p.Ala4350Thr
  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.13033G>A
  hgvsp: ENSP00000347667.3:p.Ala4345Thr
  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.13033G>A
  hgvsp: ENSP00000354254.3:p.Ala4345Thr
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2486
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 93
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 2379
  bin: 2.25e1
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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
  all individuals: 13
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genotype quality: GenotypeQuality
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala4350Thr
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

19-39056055-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39056055
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39056055
    reference: chr 19
allele count: 1
allele frequency: 9.682416731216112e-5
allele num: 10328
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.13066T>A
  hgvsp: ENSP00000347667.3:p.Ser4356Thr
  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.13081T>A
  hgvsp: ENSP00000352608.2:p.Ser4361Thr
  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.13066T>A
  hgvsp: ENSP00000354254.3:p.Ser4356Thr
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
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genotype depth: GenotypeDepth
  all individuals: 869
  bin: 2.75e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7683
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
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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: 4558
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7345
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser4361Thr
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-39056063-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39056063
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39056063
    reference: chr 19
allele count: 1
allele frequency: 9.52018278750952e-5
allele num: 10504
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.13074C>A
  hgvsp: ENSP00000347667.3:p.Phe4358Leu
  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.13089C>A
  hgvsp: ENSP00000352608.2:p.Phe4363Leu
  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.13074C>A
  hgvsp: ENSP00000354254.3:p.Phe4358Leu
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9604
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4640
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9073
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Phe4363Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-39056099-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39056099
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39056099
    reference: chr 19
allele count: 2
allele frequency: 1.864628006712661e-4
allele num: 10726
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.13110G>C
  hgvsp: ENST00000355481.4:c.13110G>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.13110G>C
  hgvsp: ENST00000360985.3:c.13110G>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.13125G>C
  hgvsp: ENST00000359596.3:c.13125G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16993
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4748
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16233
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 755
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 4
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genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr4375Thr
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

19-39056111-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39056111
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39056111
    reference: chr 19
allele count: 1
allele frequency: 9.321401938851603e-5
allele num: 10728
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.13122C>T
  hgvsp: ENST00000355481.4:c.13122C>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.13137C>T
  hgvsp: ENST00000359596.3:c.13137C>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.13122C>T
  hgvsp: ENST00000360985.3:c.13122C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16425
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 490
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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: 291
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1286
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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: 3
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu4379Leu
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

19-39056126-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39056126
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39056126
    reference: chr 19
allele count: 1
allele frequency: 9.312721177127957e-5
allele num: 10738
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.13137C>T
  hgvsp: ENST00000355481.4:c.13137C>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.13152C>T
  hgvsp: ENST00000359596.3:c.13152C>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.13137C>T
  hgvsp: ENST00000360985.3:c.13137C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4138
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15513
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 330
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genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
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genotype depth: GenotypeDepth
  all individuals: 978
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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 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: 14027
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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: 9
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1506
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro4384Pro
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP

19-39056139-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39056139
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39056139
    reference: chr 19
allele count: 1
allele frequency: 9.314456035767511e-5
allele num: 10736
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.13165G>A
  hgvsp: ENSP00000352608.2:p.Asp4389Asn
  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.13150G>A
  hgvsp: ENSP00000354254.3:p.Asp4384Asn
  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.13150G>A
  hgvsp: ENSP00000347667.3:p.Asp4384Asn
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14084
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12539
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp4389Asn
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

19-39056154-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39056154
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39056154
    reference: chr 19
allele count: 1
allele frequency: 9.372071227741331e-5
allele num: 10670
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.13165G>A
  hgvsp: ENSP00000354254.3:p.Glu4389Lys
  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.13180G>A
  hgvsp: ENSP00000352608.2:p.Glu4394Lys
  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.13165G>A
  hgvsp: ENSP00000347667.3:p.Glu4389Lys
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11911
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 10194
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 4674
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1763
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 482
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genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu4394Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

19-39056165-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39056165
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39056165
    reference: chr 19
allele count: 15
allele frequency: 1.416965803891933e-3
allele num: 10586
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.13191C>T
  hgvsp: ENST00000359596.3:c.13191C>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.13176C>T
  hgvsp: ENST00000355481.4:c.13176C>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.13176C>T
  hgvsp: ENST00000360985.3:c.13176C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10827
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 15
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: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 4551
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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: 50
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala4397Ala
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

19-39056171-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39056171
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39056171
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 10576
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.13197G>T
  hgvsp: ENST00000359596.3:c.13197G>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.13182G>T
  hgvsp: ENST00000360985.3:c.13182G>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.13182G>T
  hgvsp: ENST00000355481.4:c.13182G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11039
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro4399Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: FS

19-39056185-A-ACGGCGAGGGTGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39056185
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39056197
    reference: chr 19
allele count: 1
allele frequency: 9.714396735962697e-5
allele num: 10294
alternate allele: ACGGCGAGGGTGC
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000347667
  ensembl transcript: ENST00000355481
  gene symbol: RYR1
  hgvsp: ENSP00000347667.3:p.Gly4400_Ala4403dup
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000352608
  ensembl transcript: ENST00000359596
  gene symbol: RYR1
  hgvsp: ENSP00000352608.2:p.Gly4405_Ala4408dup
  variant of: http://identifiers.org/hgnc/10483
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000196218
  ensembl protein: ENSP00000354254
  ensembl transcript: ENST00000360985
  gene symbol: RYR1
  hgvsp: ENSP00000354254.3:p.Gly4400_Ala4403dup
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11593
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1661
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9948
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4116
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly4405_Ala4408dup
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

19-39056194-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39056194
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39056194
    reference: chr 19
allele count: 1
allele frequency: 1.018744906275469e-4
allele num: 9816
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.13220G>T
  hgvsp: ENSP00000352608.2:p.Gly4407Val
  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.13205G>T
  hgvsp: ENSP00000347667.3:p.Gly4402Val
  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.13205G>T
  hgvsp: ENSP00000354254.3:p.Gly4402Val
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12322
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10841
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3508
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly4407Val
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum

19-39056196-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39056196
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39056196
    reference: chr 19
allele count: 5
allele frequency: 5.259835893120135e-4
allele num: 9506
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.13222G>C
  hgvsp: ENSP00000352608.2:p.Ala4408Pro
  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.13207G>C
  hgvsp: ENSP00000354254.3:p.Ala4403Pro
  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.13207G>C
  hgvsp: ENSP00000347667.3:p.Ala4403Pro
  variant of: http://identifiers.org/hgnc/10483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 1
hgvs: p.Ala4408Pro
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 4061
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502268425322237e-5
allele num: 66566
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.679999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.009e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQ
type: SiteQuality
SIO_000300: 5.995e1

DP
type: SiteQuality
SIO_000300: 1.80168e6

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.73e-1

QD
type: SiteQuality
SIO_000300: 1.073e1

GenotypeQuality
all individuals: 2563
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502178158329578e-5
allele num: 66570
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.097e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 1.292e1

MQRankSum
type: SiteQuality
SIO_000300: -3.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

MQ
type: SiteQuality
SIO_000300: 5.996e1

DP
type: SiteQuality
SIO_000300: 1.801694e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.517e0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.689e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.99e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e0

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.64e-1

DP
type: SiteQuality
SIO_000300: 1.801681e6

QD
type: SiteQuality
SIO_000300: 1.382e1

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 4.814172925091469e-4
allele num: 10386
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66554
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.629e1

DP
type: SiteQuality
SIO_000300: 1.804039e6

FS
type: SiteQuality
SIO_000300: 1.453e0

MQRankSum
type: SiteQuality
SIO_000300: -3.234e0

QD
type: SiteQuality
SIO_000300: 8.3e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.046e0

GenotypeQuality
all individuals: 977
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.628345850182938e-5
allele num: 10386
num of homozygotes: 0

South Asian
type: Population
allele count: 91
allele frequency: 5.511811023622047e-3
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50253929140247e-5
allele num: 66554
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.453e0

DP
type: SiteQuality
SIO_000300: 1.804039e6

MQRankSum
type: SiteQuality
SIO_000300: -3.234e0

VQSLOD
type: SiteQuality
SIO_000300: -1.046e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

QD
type: SiteQuality
SIO_000300: 8.3e-1

MQ
type: SiteQuality
SIO_000300: 5.629e1

GenotypeQuality
all individuals: 9342
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

Other
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East Asian
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 3.045066991473812e-4
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Latino
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African
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MQRankSum
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BaseQRankSum
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DP
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQ
type: SiteQuality
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FS
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QD
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66508
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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South Asian
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East Asian
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VQSLOD
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QD
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MQRankSum
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BaseQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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ReadPosRankSum
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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: 1.503849855630414e-5
allele num: 66496
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Latino
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allele frequency: 0.0e0
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East Asian
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African
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South Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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BaseQRankSum
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FS
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MQRankSum
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InbreedingCoeff
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QD
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DP
type: SiteQuality
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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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Latino
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allele num: 11554
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6552
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.955357680043319e-4
allele num: 66484
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Other
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East Asian
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FS
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ClippingRankSum
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DP
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MQRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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QD
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.048e0

GenotypeQuality
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variant carriers: 0

Other
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African
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South Asian
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allele frequency: 0.0e0
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East Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66484
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European (Finnish)
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Latino
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allele frequency: 2.596503375454388e-4
allele num: 11554
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ClippingRankSum
type: SiteQuality
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QD
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DP
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
type: SiteQuality
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VQSLOD
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 1120
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 166
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Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 7.431260837255387e-4
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African
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allele frequency: 8.382229673093043e-4
allele num: 2386
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European (Non-Finnish)
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allele count: 20
allele frequency: 2.094679514034353e-3
allele num: 9548
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Other
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allele count: 1
allele frequency: 5.813953488372093e-3
allele num: 172
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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DP
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 198
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Latino
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South Asian
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allele frequency: 1.231830500123183e-4
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East Asian
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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Other
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FS
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 9.243852837862822e-5
allele num: 10818
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Other
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Latino
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South Asian
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East Asian
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African
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European (Finnish)
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MQRankSum
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VQSLOD
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MQ
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DP
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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QD
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ClippingRankSum
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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Other
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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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MQRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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QD
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DP
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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South Asian
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African
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Other
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Latino
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European (Finnish)
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ReadPosRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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QD
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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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GenotypeQuality
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Latino
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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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European (Finnish)
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BaseQRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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FS
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VQSLOD
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DP
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ReadPosRankSum
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QD
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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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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DP
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MQ
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MQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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FS
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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African
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Latino
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European (Finnish)
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South Asian
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MQ
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.55e-1

FS
type: SiteQuality
SIO_000300: 3.062e0

MQRankSum
type: SiteQuality
SIO_000300: 7.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.66e0

QD
type: SiteQuality
SIO_000300: 1.348e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.3e-1

DP
type: SiteQuality
SIO_000300: 1.789611e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-1

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505208019748329e-5
allele num: 66436
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16316
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

FS
type: SiteQuality
SIO_000300: 5.428e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e0

VQSLOD
type: SiteQuality
SIO_000300: 5.37e-1

DP
type: SiteQuality
SIO_000300: 1.788067e6

QD
type: SiteQuality
SIO_000300: 9.82e0

GenotypeQuality
all individuals: 34974
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.010325416177489e-5
allele num: 66438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

African
type: Population
allele count: 19
allele frequency: 1.833976833976834e-3
allele num: 10360
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.124448799608035e-5
allele num: 16328
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.78753e6

MQ
type: SiteQuality
SIO_000300: 5.915e1

QD
type: SiteQuality
SIO_000300: 1.209e1

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.558e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.71e-1

FS
type: SiteQuality
SIO_000300: 2.098e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.16e-1

GenotypeQuality
all individuals: 1278
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3010
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 260
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11810
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8242
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1558
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.83e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 2.218e0

MQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.19116e5

VQSLOD
type: SiteQuality
SIO_000300: -7.363e-1

QD
type: SiteQuality
SIO_000300: 6.98e0

GenotypeQuality
all individuals: 617
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1456
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31777
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.845598619174644e-5
allele num: 12746
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1712
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3228
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 978
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.86e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.4e-1

DP
type: SiteQuality
SIO_000300: 6.44855e5

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.45e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 3.09e0

VQSLOD
type: SiteQuality
SIO_000300: -2.06e0

GenotypeQuality
all individuals: 1097
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7002
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 7.25e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1184
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3520
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1990
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 4.885538805136795e-4
allele num: 14328
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 348
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

MQRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.212e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.06e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

FS
type: SiteQuality
SIO_000300: 3.584e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.73313e5

GenotypeQuality
all individuals: 640
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 136
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3842
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1478
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2336
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 466
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 232
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.08198515995621e-5
allele num: 16442
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.187e0

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.91e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.10158e5

BaseQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.455e1

GenotypeQuality
all individuals: 193
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1518
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 466
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 4.212299915754001e-4
allele num: 2374
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 232
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16694
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.12303e5

ClippingRankSum
type: SiteQuality
SIO_000300: 5.55e-1

QD
type: SiteQuality
SIO_000300: 6.61e0

MQRankSum
type: SiteQuality
SIO_000300: -3.77e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -8.368e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.72e-2

GenotypeQuality
all individuals: 143
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1774
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8772
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.416531253385332e-5
allele num: 18462
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1722
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2634
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4146
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.174e0

VQSLOD
type: SiteQuality
SIO_000300: -2.384e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.39e-1

FS
type: SiteQuality
SIO_000300: 1.453e0

MQRankSum
type: SiteQuality
SIO_000300: -3.91e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.36102e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.61e-2

QD
type: SiteQuality
SIO_000300: 3.85e0

GenotypeQuality
all individuals: 8976
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 253
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1786
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.326515393629488e-5
allele num: 18774
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 590
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2670
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4180
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8776
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.43e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.78e-1

DP
type: SiteQuality
SIO_000300: 7.36896e5

VQSLOD
type: SiteQuality
SIO_000300: -1.868e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.859999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.54e-1

GenotypeQuality
all individuals: 536
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1784
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8776
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4180
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1786
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.326515393629488e-5
allele num: 18774
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 590
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2670
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.34e-1

QD
type: SiteQuality
SIO_000300: 8.859999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -1.868e-1

DP
type: SiteQuality
SIO_000300: 7.36896e5

MQRankSum
type: SiteQuality
SIO_000300: 8.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.43e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.54e-1

GenotypeQuality
all individuals: 34117
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 643
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.1001100110011e-3
allele num: 1818
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2698
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18846
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4166
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 590
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.94e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.722e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.78e-1

DP
type: SiteQuality
SIO_000300: 7.36301e5

FS
type: SiteQuality
SIO_000300: 3.524e0

QD
type: SiteQuality
SIO_000300: 9.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.68e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 8834
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1768
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.137138958380714e-4
allele num: 8794
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19004
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2710
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1842
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4184
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.4e0

FS
type: SiteQuality
SIO_000300: 1.2548e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.67e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

DP
type: SiteQuality
SIO_000300: 7.3755e5

QD
type: SiteQuality
SIO_000300: 2.921e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.35e-1

GenotypeQuality
all individuals: 76
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 8873
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1745
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4166
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2666
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1846
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.584451251716489e-4
allele num: 18934
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8772
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.41654e5

MQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

QD
type: SiteQuality
SIO_000300: 5.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.69e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.87e-2

GenotypeQuality
all individuals: 358
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 92
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4030
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2546
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1740
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 592
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8684
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.532197388802833e-5
allele num: 18076
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 262
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e0

VQSLOD
type: SiteQuality
SIO_000300: -2.593e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.78e-2

QD
type: SiteQuality
SIO_000300: 4.63e0

FS
type: SiteQuality
SIO_000300: 5.238e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

DP
type: SiteQuality
SIO_000300: 7.0046e5

GenotypeQuality
all individuals: 5976
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15590
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variant carriers: 0

GenotypeQuality
all individuals: 27714
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1366
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 428
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.659563132658497e-5
allele num: 15016
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2022
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.843e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

FS
type: SiteQuality
SIO_000300: 6.532e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.94e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.827e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.18e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.61e0

DP
type: SiteQuality
SIO_000300: 6.39292e5

QD
type: SiteQuality
SIO_000300: 5.49e0

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1579
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13000
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.204819277108434e-4
allele num: 8300
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3246
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1116
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 330
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.783e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

FS
type: SiteQuality
SIO_000300: 2.035e0

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.85e-2

MQ
type: SiteQuality
SIO_000300: 5.951e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.78e-1

DP
type: SiteQuality
SIO_000300: 5.99374e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.63e-1

GenotypeQuality
all individuals: 112
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3214
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.207437816952427e-4
allele num: 8282
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1086
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12734
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1686
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

VQSLOD
type: SiteQuality
SIO_000300: -5.523e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

DP
type: SiteQuality
SIO_000300: 5.95686e5

MQRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

FS
type: SiteQuality
SIO_000300: 2.657e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.96e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.754e0

QD
type: SiteQuality
SIO_000300: 3.397e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 593
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1511
bin: 6.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.509319132750095e-5
allele num: 10516
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2802
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.031e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.65e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

DP
type: SiteQuality
SIO_000300: 5.47502e5

VQSLOD
type: SiteQuality
SIO_000300: -2.349e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 4.88e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 301
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1088
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8018
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.083423618634886e-4
allele num: 9230
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 5.652e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.17e-1

FS
type: SiteQuality
SIO_000300: 2.632e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.08e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 5.24625e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e0

VQSLOD
type: SiteQuality
SIO_000300: -9.781e-1

GenotypeQuality
all individuals: 122
bin: 3.75e1
variant carriers: 5

GenotypeQuality
all individuals: 519
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1465
bin: 6.75e1
variant carriers: 7

GenotypeQuality
all individuals: 3708
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 102
bin: 8.75e1
variant carriers: 6

African
type: Population
allele count: 105
allele frequency: 4.203362690152122e-2
allele num: 2498
num of homozygotes: 5

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.253267237494367e-4
allele num: 8876
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7972
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1022
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.358e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

FS
type: SiteQuality
SIO_000300: 2.066e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.64e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 5.16789e5

GenotypeQuality
all individuals: 586
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
all individuals: 1432
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7936
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2296
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.207729468599034e-4
allele num: 8280
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 534
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -6.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.013e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.54e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.24e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.95632e5

QD
type: SiteQuality
SIO_000300: 3.13e0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
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GenotypeQuality
all individuals: 2277
bin: 1.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8204
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2254
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 160
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.307e0

DP
type: SiteQuality
SIO_000300: 4.92777e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.732e0

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

QD
type: SiteQuality
SIO_000300: 7.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

GenotypeQuality
all individuals: 112
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 585
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GenotypeQuality
all individuals: 489
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GenotypeQuality
all individuals: 98
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variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2170
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7998
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7920
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.85756e5

BaseQRankSum
type: SiteQuality
SIO_000300: -9.88e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.558e0

MQRankSum
type: SiteQuality
SIO_000300: -1.537e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.75e-2

QD
type: SiteQuality
SIO_000300: 8.779999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

GenotypeQuality
all individuals: 454
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variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 2.75e1
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GenotypeQuality
all individuals: 298
bin: 8.25e1
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GenotypeQuality
all individuals: 96
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 84
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7828
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 160
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502855425308085e-4
allele num: 6654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 356
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.658e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.03e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.69e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.49e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.11e0

DP
type: SiteQuality
SIO_000300: 4.49821e5

GenotypeQuality
all individuals: 96
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1384
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 86
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 2.890173410404624e-3
allele num: 346
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1716
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.278118609406953e-4
allele num: 7824
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.392e0

DP
type: SiteQuality
SIO_000300: 4.47462e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.68e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.018e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.86e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.073e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 452
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2659
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 160
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5926
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7776
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.66e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.18e-2

DP
type: SiteQuality
SIO_000300: 4.23014e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.33e-1

FS
type: SiteQuality
SIO_000300: 2.392e0

VQSLOD
type: SiteQuality
SIO_000300: -1.931e0

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

GenotypeQuality
all individuals: 112
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2598
bin: 6.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 506
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.287664177182591e-4
allele num: 7766
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.561e0

QD
type: SiteQuality
SIO_000300: 1.248e1

MQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.863e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e0

DP
type: SiteQuality
SIO_000300: 4.10411e5

FS
type: SiteQuality
SIO_000300: 1.833e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.46e-2

GenotypeQuality
all individuals: 64
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 96
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7742
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5312
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.026e1

DP
type: SiteQuality
SIO_000300: 4.04805e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.0e0

MQ
type: SiteQuality
SIO_000300: 5.554e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.64e-2

GenotypeQuality
all individuals: 582
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 9.75e1
variant carriers: 4

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5312
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 3.874967708602429e-4
allele num: 7742
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1168
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.64e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.0e0

MQ
type: SiteQuality
SIO_000300: 5.554e1

QD
type: SiteQuality
SIO_000300: 1.026e1

DP
type: SiteQuality
SIO_000300: 4.04805e5

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 320
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4336
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7668
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.95e-2

MQ
type: SiteQuality
SIO_000300: 4.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.231e0

DP
type: SiteQuality
SIO_000300: 3.66603e5

MQRankSum
type: SiteQuality
SIO_000300: -1.231e0

VQSLOD
type: SiteQuality
SIO_000300: 2.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

QD
type: SiteQuality
SIO_000300: 9.57e0

GenotypeQuality
all individuals: 1733
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 7.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3322
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7522
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 126
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.15683e5

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 1.065e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.67e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.26e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7486
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 126
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3188
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 448
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.04167e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.22e0

VQSLOD
type: SiteQuality
SIO_000300: -2.997e0

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.690000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.219e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.188e1

GenotypeQuality
all individuals: 1313
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2378
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 110
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3174
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.337613697164259e-4
allele num: 7476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 126
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.233e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.599999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.276e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.1e-1

MQ
type: SiteQuality
SIO_000300: 5.905e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.71e-1

DP
type: SiteQuality
SIO_000300: 3.00661e5

GenotypeQuality
all individuals: 432
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 2.678810608090008e-4
allele num: 7466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3090
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.014e0

MQ
type: SiteQuality
SIO_000300: 5.371e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQRankSum
type: SiteQuality
SIO_000300: -4.571e0

FS
type: SiteQuality
SIO_000300: 4.075e0

QD
type: SiteQuality
SIO_000300: 5.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.58e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-2

DP
type: SiteQuality
SIO_000300: 2.92109e5

BaseQRankSum
type: SiteQuality
SIO_000300: 6.17e0

GenotypeQuality
all individuals: 132
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 28
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2848
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 98
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

QD
type: SiteQuality
SIO_000300: 9.140000000000001e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.162e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.19e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 2.45533e5

GenotypeQuality
all individuals: 66
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2149
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2838
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 98
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.2e-2

QD
type: SiteQuality
SIO_000300: 1.419e1

VQSLOD
type: SiteQuality
SIO_000300: 3.17e0

DP
type: SiteQuality
SIO_000300: 2.45385e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1366
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2342
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 84
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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allele num: 6864
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ClippingRankSum
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MQRankSum
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VQSLOD
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BaseQRankSum
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DP
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QD
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ReadPosRankSum
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InbreedingCoeff
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FS
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MQ
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 1262
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Latino
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allele frequency: 0.0e0
allele num: 52
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 128
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 2.210433244916003e-4
allele num: 4524
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Other
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QD
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MQRankSum
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DP
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FS
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 2114
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Other
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: NaN
allele num: 0
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East Asian
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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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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 264
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DP
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ClippingRankSum
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MQRankSum
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QD
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InbreedingCoeff
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FS
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VQSLOD
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BaseQRankSum
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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allele frequency: 3.378378378378379e-3
allele num: 296
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: NaN
allele num: 0
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Latino
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allele frequency: NaN
allele num: 0
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European (Finnish)
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allele frequency: NaN
allele num: 0
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Other
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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DP
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ClippingRankSum
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VQSLOD
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QD
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FS
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MQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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African
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East Asian
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Latino
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South Asian
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European (Non-Finnish)
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BaseQRankSum
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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QD
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FS
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VQSLOD
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ClippingRankSum
type: SiteQuality
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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Other
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East Asian
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African
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European (Finnish)
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allele frequency: NaN
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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FS
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DP
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MQ
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BaseQRankSum
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QD
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
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African
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allele frequency: NaN
allele num: 0
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Other
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East Asian
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allele frequency: NaN
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European (Non-Finnish)
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allele frequency: NaN
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Latino
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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DP
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MQ
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FS
type: SiteQuality
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ClippingRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

South 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 frequency: 0.0e0
allele num: 46
num of homozygotes: 0

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

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

Other
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African
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allele frequency: 0.0e0
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South Asian
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allele num: 1930
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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: NaN
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East Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 274
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MQ
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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FS
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DP
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MQRankSum
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ClippingRankSum
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QD
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GenotypeQuality
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variant carriers: 0

Other
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.370238421485339e-4
allele num: 7298
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European (Finnish)
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East Asian
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InbreedingCoeff
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ReadPosRankSum
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QD
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MQ
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VQSLOD
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MQRankSum
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ClippingRankSum
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FS
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DP
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

European (Finnish)
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allele frequency: NaN
allele num: 0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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South Asian
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allele frequency: 1.352813852813853e-4
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Latino
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Other
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allele frequency: 0.0e0
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DP
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ClippingRankSum
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FS
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VQSLOD
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MQRankSum
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QD
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MQ
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 2

Other
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East Asian
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South Asian
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allele frequency: 2.67379679144385e-4
allele num: 7480
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European (Finnish)
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allele frequency: NaN
allele num: 0
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Latino
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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QD
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ReadPosRankSum
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FS
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VQSLOD
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BaseQRankSum
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MQ
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DP
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GenotypeQuality
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variant carriers: 1

East Asian
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African
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Other
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European (Finnish)
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allele frequency: NaN
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Latino
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South Asian
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allele frequency: 1.337255950788981e-4
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European (Non-Finnish)
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BaseQRankSum
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MQ
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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QD
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VQSLOD
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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

Other
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Latino
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European (Non-Finnish)
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African
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East Asian
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South Asian
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allele frequency: 1.337255950788981e-4
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European (Finnish)
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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FS
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MQRankSum
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SIO_000300: 2.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

QD
type: SiteQuality
SIO_000300: 1.163e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-2

DP
type: SiteQuality
SIO_000300: 1.5495e5

GenotypeQuality
all individuals: 4719
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.679175864606328e-4
allele num: 2718
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7474
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

DP
type: SiteQuality
SIO_000300: 1.51795e5

VQSLOD
type: SiteQuality
SIO_000300: -1.776e0

QD
type: SiteQuality
SIO_000300: 1.009e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.38e-2

FS
type: SiteQuality
SIO_000300: 1.565e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.71e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.219e0

GenotypeQuality
all individuals: 9
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.717472118959108e-4
allele num: 2690
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7440
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 90
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.168e0

DP
type: SiteQuality
SIO_000300: 1.46477e5

QD
type: SiteQuality
SIO_000300: 1.178e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.09e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.997e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.32e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

MQRankSum
type: SiteQuality
SIO_000300: 6.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.727e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-1

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 90
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

South Asian
type: Population
allele count: 15
allele frequency: 2.028671896131999e-3
allele num: 7394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2654
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.06e-2

DP
type: SiteQuality
SIO_000300: 1.43206e5

FS
type: SiteQuality
SIO_000300: 6.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.47e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

QD
type: SiteQuality
SIO_000300: 1.196e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.55e-1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 90
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2666
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7366
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.84e-2

DP
type: SiteQuality
SIO_000300: 1.42505e5

QD
type: SiteQuality
SIO_000300: 1.276e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 112
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 88
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2584
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.395478649176668e-4
allele num: 7166
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.471e0

MQRankSum
type: SiteQuality
SIO_000300: -1.616e0

MQ
type: SiteQuality
SIO_000300: 5.645e1

DP
type: SiteQuality
SIO_000300: 1.39857e5

ClippingRankSum
type: SiteQuality
SIO_000300: -7.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.88e0

VQSLOD
type: SiteQuality
SIO_000300: -2.115e0

QD
type: SiteQuality
SIO_000300: 3.62e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.72e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.04e-2

GenotypeQuality
all individuals: 1
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 104
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 88
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2452
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.462843768285547e-4
allele num: 6836
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-1

QD
type: SiteQuality
SIO_000300: 1.141e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.627e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.920000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.34204e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.928e0

MQRankSum
type: SiteQuality
SIO_000300: -1.01e0