12-56548846-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56548846
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56548846
    reference: chr 12
allele count: 1
allele frequency: 8.417650128790047e-6
allele num: 118798
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.210G>T
  hgvsp: ENSP00000446643.1:p.Lys70Asn
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.210G>T
  hgvsp: ENSP00000207437.5:p.Lys70Asn
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.210G>T
  hgvsp: ENSP00000446965.1:p.Lys70Asn
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2572C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.450G>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.257G>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.210G>T
  hgvsp: ENSP00000450385.1:p.Lys70Asn
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.298G>T
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6890
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3977
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys70Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

12-56548846-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56548846
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56548846
    reference: chr 12
allele count: 3
allele frequency: 2.525295038637014e-5
allele num: 118798
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.210G>A
  hgvsp: ENST00000553066.1:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.210G>A
  hgvsp: ENST00000552568.1:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.210G>A
  hgvsp: ENST00000207437.5:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.210G>A
  hgvsp: ENST00000550443.1:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2572C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.257G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.298G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.450G>A
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6890
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3223
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys70Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

12-56548849-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56548849
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56548849
    reference: chr 12
allele count: 1
allele frequency: 8.39602364320258e-6
allele num: 119104
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.213G>A
  hgvsp: ENST00000552568.1:c.213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.213G>A
  hgvsp: ENST00000553066.1:c.213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.213G>A
  hgvsp: ENST00000550443.1:c.213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.213G>A
  hgvsp: ENST00000207437.5:c.213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.260G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.301G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.453G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2569C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6890
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5332
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8015
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30150
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3132
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu71Glu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

12-56548856-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56548856
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56548856
    reference: chr 12
allele count: 1
allele frequency: 8.340561820244212e-6
allele num: 119896
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.220G>A
  hgvsp: ENSP00000446643.1:p.Glu74Lys
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.460G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.220G>A
  hgvsp: ENSP00000446965.1:p.Glu74Lys
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2562C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.308G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.220G>A
  hgvsp: ENSP00000450385.1:p.Glu74Lys
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.267G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.220G>A
  hgvsp: ENSP00000207437.5:p.Glu74Lys
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6890
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3141
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3189
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11772
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu74Lys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

12-56548868-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56548868
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56548868
    reference: chr 12
allele count: 1
allele frequency: 8.288849839196314e-6
allele num: 120644
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.279C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.320C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.232C>T
  hgvsp: ENSP00000446643.1:p.Arg78Ter
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.232C>T
  hgvsp: ENSP00000207437.5:p.Arg78Ter
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2550G>A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.232C>T
  hgvsp: ENSP00000446965.1:p.Arg78Ter
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.232C>T
  hgvsp: ENSP00000450385.1:p.Arg78Ter
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.472C>T
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6891
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30148
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3190
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg78Ter
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP

12-56548869-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56548869
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56548869
    reference: chr 12
allele count: 3
allele frequency: 2.484513201046808e-5
allele num: 120748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.321G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.233G>A
  hgvsp: ENSP00000450385.1:p.Arg78Gln
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.280G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2549C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.233G>A
  hgvsp: ENSP00000446965.1:p.Arg78Gln
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.233G>A
  hgvsp: ENSP00000446643.1:p.Arg78Gln
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.473G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.233G>A
  hgvsp: ENSP00000207437.5:p.Arg78Gln
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6891
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7342
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3151
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg78Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-56548873-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56548873
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56548873
    reference: chr 12
allele count: 1
allele frequency: 8.269383434771103e-6
allele num: 120928
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.284G>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.477G>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2545C>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.237G>C
  hgvsp: ENST00000553066.1:c.237G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.237G>C
  hgvsp: ENST00000207437.5:c.237G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.237G>C
  hgvsp: ENST00000552568.1:c.237G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.237G>C
  hgvsp: ENST00000550443.1:c.237G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.325G>C
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6894
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8087
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12746
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3156
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30147
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val79Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

12-56548877-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56548877
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56548877
    reference: chr 12
allele count: 1
allele frequency: 8.264736024331383e-6
allele num: 120996
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.241G>A
  hgvsp: ENSP00000207437.5:p.Asp81Asn
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2541C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.241G>A
  hgvsp: ENSP00000446965.1:p.Asp81Asn
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.329G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.241G>A
  hgvsp: ENSP00000446643.1:p.Asp81Asn
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.241G>A
  hgvsp: ENSP00000450385.1:p.Asp81Asn
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.288G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.481G>A
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6892
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp81Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

12-56548901-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56548901
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56548901
    reference: chr 12
allele count: 1
allele frequency: 8.251778258214646e-6
allele num: 121186
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.265T>C
  hgvsp: ENSP00000450385.1:p.Cys89Arg
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.505T>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.265T>C
  hgvsp: ENSP00000207437.5:p.Cys89Arg
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2517A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.265T>C
  hgvsp: ENSP00000446643.1:p.Cys89Arg
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.265T>C
  hgvsp: ENSP00000446965.1:p.Cys89Arg
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.353T>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.312T>C
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6891
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3230
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30146
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4195
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Cys89Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

12-56548903-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56548903
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56548903
    reference: chr 12
allele count: 9
allele frequency: 7.425987656358296e-5
allele num: 121196
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.267T>G
  hgvsp: ENSP00000446965.1:p.Cys89Trp
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.355T>G
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.267T>G
  hgvsp: ENSP00000446643.1:p.Cys89Trp
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.267T>G
  hgvsp: ENSP00000450385.1:p.Cys89Trp
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.507T>G
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.267T>G
  hgvsp: ENSP00000207437.5:p.Cys89Trp
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.314T>G
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2515A>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7177
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7335
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6890
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8101
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 12983
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4195
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Cys89Trp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ

12-56548906-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56548906
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56548906
    reference: chr 12
allele count: 1
allele frequency: 8.251097395953662e-6
allele num: 121196
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.510G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.270G>A
  hgvsp: ENST00000207437.5:c.270G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.270G>A
  hgvsp: ENST00000553066.1:c.270G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.358G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.270G>A
  hgvsp: ENST00000550443.1:c.270G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2512C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.270G>A
  hgvsp: ENST00000552568.1:c.270G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.317G>A
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6892
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3188
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12990
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly90Gly
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

12-56548909-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56548909
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56548909
    reference: chr 12
allele count: 7
allele frequency: 5.776149453741294e-5
allele num: 121188
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.273C>T
  hgvsp: ENST00000207437.5:c.273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.273C>T
  hgvsp: ENST00000550443.1:c.273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.273C>T
  hgvsp: ENST00000553066.1:c.273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.320C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.273C>T
  hgvsp: ENST00000552568.1:c.273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2509G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.361C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.513C>T
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6891
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3227
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3150
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp91Asp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

12-56548910-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56548910
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56548910
    reference: chr 12
allele count: 20
allele frequency: 1.650464605786529e-4
allele num: 121178
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.321G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.274G>A
  hgvsp: ENSP00000446965.1:p.Val92Met
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.274G>A
  hgvsp: ENSP00000450385.1:p.Val92Met
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.274G>A
  hgvsp: ENSP00000207437.5:p.Val92Met
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.362G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.274G>A
  hgvsp: ENSP00000446643.1:p.Val92Met
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.514G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2508C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5333
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6891
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3149
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4193
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1839
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val92Met
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

12-56548911-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56548911
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56548911
    reference: chr 12
allele count: 1
allele frequency: 8.252323028932645e-6
allele num: 121178
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.515T>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.322T>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.275T>C
  hgvsp: ENSP00000450385.1:p.Val92Ala
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.275T>C
  hgvsp: ENSP00000207437.5:p.Val92Ala
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.275T>C
  hgvsp: ENSP00000446965.1:p.Val92Ala
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.275T>C
  hgvsp: ENSP00000446643.1:p.Val92Ala
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2507A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.363T>C
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6893
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5334
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12989
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val92Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-56548913-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56548913
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56548913
    reference: chr 12
allele count: 46
allele frequency: 3.795943291908039e-4
allele num: 121182
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.277A>G
  hgvsp: ENSP00000446965.1:p.Met93Val
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.277A>G
  hgvsp: ENSP00000450385.1:p.Met93Val
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.324A>G
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2505T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.517A>G
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.277A>G
  hgvsp: ENSP00000446643.1:p.Met93Val
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.365A>G
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.277A>G
  hgvsp: ENSP00000207437.5:p.Met93Val
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8105
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6894
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7337
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6434
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5309
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5335
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 9.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7196
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3148
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4190
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30143
  bin: 9.75e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Met93Val
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-56548915-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56548915
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56548915
    reference: chr 12
allele count: 3
allele frequency: 2.476269087907552e-5
allele num: 121150
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.367G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.279G>A
  hgvsp: ENSP00000446643.1:p.Met93Ile
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.279G>A
  hgvsp: ENSP00000450385.1:p.Met93Ile
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.279G>A
  hgvsp: ENSP00000446965.1:p.Met93Ile
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2503C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.279G>A
  hgvsp: ENSP00000207437.5:p.Met93Ile
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.326G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.519G>A
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3977
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7199
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1839
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3192
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Met93Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/12-56548921-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56548921
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56548921
    reference: chr 12
allele count: 44
allele frequency: 3.632460992322298e-4
allele num: 121130
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.332C>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.525C>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.285C>A
  hgvsp: ENST00000207437.5:c.285C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.373C>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.285C>A
  hgvsp: ENST00000552568.1:c.285C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.285C>A
  hgvsp: ENST00000550443.1:c.285C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2497G>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.285C>A
  hgvsp: ENST00000553066.1:c.285C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6902
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8111
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 9.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3141
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3193
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1839
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala95Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

12-56548927-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56548927
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56548927
    reference: chr 12
allele count: 1
allele frequency: 8.259957378619926e-6
allele num: 121066
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.338C>G
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.291C>G
  hgvsp: ENST00000207437.5:c.291C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.531C>G
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.379C>G
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.291C>G
  hgvsp: ENST00000550443.1:c.291C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.291C>G
  hgvsp: ENST00000553066.1:c.291C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2491G>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.291C>G
  hgvsp: ENST00000552568.1:c.291C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5337
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly97Gly
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-56548931-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56548931
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56548931
    reference: chr 12
allele count: 1
allele frequency: 8.264736024331383e-6
allele num: 120996
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2487T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.295A>C
  hgvsp: ENSP00000207437.5:p.Asn99His
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.383A>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.295A>C
  hgvsp: ENSP00000450385.1:p.Asn99His
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.535A>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.342A>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.295A>C
  hgvsp: ENSP00000446965.1:p.Asn99His
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.295A>C
  hgvsp: ENSP00000446643.1:p.Asn99His
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6910
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7337
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30097
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3232
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4151
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn99His
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
reference allele: A
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

12-56548943-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56548943
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56548943
    reference: chr 12
allele count: 3
allele frequency: 2.484554353767412e-5
allele num: 120746
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.395G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.307G>A
  hgvsp: ENSP00000446965.1:p.Ala103Thr
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.547G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.354G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.307G>A
  hgvsp: ENSP00000207437.5:p.Ala103Thr
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.307G>A
  hgvsp: ENSP00000450385.1:p.Ala103Thr
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.307G>A
  hgvsp: ENSP00000446643.1:p.Ala103Thr
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2475C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6906
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3228
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3197
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala103Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

12-56548945-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56548945
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56548945
    reference: chr 12
allele count: 2
allele frequency: 1.65708320214758e-5
allele num: 120694
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.309C>T
  hgvsp: ENST00000552568.1:c.309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.309C>T
  hgvsp: ENST00000207437.5:c.309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.397C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.309C>T
  hgvsp: ENST00000550443.1:c.309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.309C>T
  hgvsp: ENST00000553066.1:c.309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.356C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2473G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.549C>T
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6909
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7086
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4665
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3229
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4072
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala103Ala
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

http://identifiers.org/exac.variant/12-56548945-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56548945
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56548945
    reference: chr 12
allele count: 1
allele frequency: 8.285416010737898e-6
allele num: 120694
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.549C>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2473G>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.309C>A
  hgvsp: ENST00000207437.5:c.309C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.309C>A
  hgvsp: ENST00000553066.1:c.309C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.356C>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.309C>A
  hgvsp: ENST00000552568.1:c.309C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.397C>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.309C>A
  hgvsp: ENST00000550443.1:c.309C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7086
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6909
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30092
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4072
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala103Ala
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

12-56548953-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56548953
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56548953
    reference: chr 12
allele count: 1
allele frequency: 8.306889734345666e-6
allele num: 120382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.317T>C
  hgvsp: ENSP00000207437.5:p.Leu106Pro
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2465A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.317T>C
  hgvsp: ENSP00000446965.1:p.Leu106Pro
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.317T>C
  hgvsp: ENSP00000450385.1:p.Leu106Pro
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.364T>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.557T>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.405T>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.317T>C
  hgvsp: ENSP00000446643.1:p.Leu106Pro
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6906
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7319
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30089
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3226
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu106Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

12-56548961-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56548961
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56548961
    reference: chr 12
allele count: 1
allele frequency: 8.332083520805212e-6
allele num: 120018
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.413C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.325C>T
  hgvsp: ENST00000550443.1:c.325C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.565C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.325C>T
  hgvsp: ENST00000552568.1:c.325C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.325C>T
  hgvsp: ENST00000553066.1:c.325C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.372C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.325C>T
  hgvsp: ENST00000207437.5:c.325C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2457G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6764
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6904
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11007
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30088
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu109Leu
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

12-56548970-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56548970
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56548970
    reference: chr 12
allele count: 18
allele frequency: 1.50546987387508e-4
allele num: 119564
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2448G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.334C>T
  hgvsp: ENSP00000450385.1:p.Pro112Ser
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.334C>T
  hgvsp: ENSP00000446965.1:p.Pro112Ser
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.334C>T
  hgvsp: ENSP00000446643.1:p.Pro112Ser
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.334C>T
  hgvsp: ENSP00000207437.5:p.Pro112Ser
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.381C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.574C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.422C>T
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6547
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6903
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3579
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10541
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3099
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro112Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD

12-56548972-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56548972
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56548972
    reference: chr 12
allele count: 1
allele frequency: 8.37184381488179e-6
allele num: 119448
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.424C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.336C>T
  hgvsp: ENST00000207437.5:c.336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.576C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.336C>T
  hgvsp: ENST00000553066.1:c.336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.336C>T
  hgvsp: ENST00000550443.1:c.336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2446G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.336C>T
  hgvsp: ENST00000552568.1:c.336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.383C>T
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6904
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3977
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6444
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3213
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3193
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3930
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2052
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro112Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-56548972-CAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56548972
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56548970
    reference: chr 12
allele count: 1
allele frequency: 8.37184381488179e-6
allele num: 119448
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.337_338delAA
  hgvsp: ENSP00000450385.1:p.Lys113GlufsTer2
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.384_385delAA
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.337_338delAA
  hgvsp: ENSP00000207437.5:p.Lys113GlufsTer2
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.425_426delAA
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2444_350+2445delTT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.337_338delAA
  hgvsp: ENSP00000446965.1:p.Lys113GlufsTer2
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.577_578delAA
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.337_338delAA
  hgvsp: ENSP00000446643.1:p.Lys113GlufsTer2
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6904
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3977
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3930
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3193
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2052
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys113GlufsTer2
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
reference allele: CAA
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

12-56548977-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56548977
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56548977
    reference: chr 12
allele count: 4
allele frequency: 3.359368438733518e-5
allele num: 119070
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2441C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.341G>A
  hgvsp: ENSP00000450385.1:p.Ser114Asn
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.341G>A
  hgvsp: ENSP00000446643.1:p.Ser114Asn
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.581G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.341G>A
  hgvsp: ENSP00000207437.5:p.Ser114Asn
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.388G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.429G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.341G>A
  hgvsp: ENSP00000446965.1:p.Ser114Asn
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3977
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1763
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30079
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser114Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: FS

12-56548983-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56548983
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56548983
    reference: chr 12
allele count: 2
allele frequency: 1.686056314280897e-5
allele num: 118620
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.434+1G>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.346+1G>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.346+1G>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.346+1G>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.346+1G>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.586+1G>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2435C>A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.393+1G>T
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6195
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3977
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6446
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6903
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3813
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3012
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9347
  bin: 6.25e1
  variant carriers: 0
hgvs: c.346+1G>T
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD

12-56548993-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56548993
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56548993
    reference: chr 12
allele count: 1
allele frequency: 8.510928031592565e-6
allele num: 117496
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.346+11C>G
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.434+11C>G
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.586+11C>G
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.346+11C>G
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.346+11C>G
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.393+11C>G
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.346+11C>G
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2425G>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6873
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3037
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3189
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1702
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4078
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3526
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

12-56548999-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56548999
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56548999
    reference: chr 12
allele count: 1
allele frequency: 8.577506347354697e-6
allele num: 116584
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.346+17G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2419C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.346+17G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.434+17G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.346+17G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.586+17G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.393+17G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.346+17G>A
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6423
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6833
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4278
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6935
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3013
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30047
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

12-56549008-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56549008
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56549008
    reference: chr 12
allele count: 1
allele frequency: 8.649172274213358e-6
allele num: 115618
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.346+26G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.346+26G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.346+26G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.434+26G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.346+26G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.393+26G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2410C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.586+26G>A
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4283
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6153
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1707
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4323
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

12-56549153-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56549153
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56549153
    reference: chr 12
allele count: 1
allele frequency: 8.268152729317216e-6
allele num: 120946
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.347-50T>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.347-50T>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.347-50T>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.587-50T>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.347-50T>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.394-50T>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.435-50T>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2265A>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42255
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

12-56549157-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56549157
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56549157
    reference: chr 12
allele count: 2
allele frequency: 1.653111155194075e-5
allele num: 120984
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.347-46A>G
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.347-46A>G
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.347-46A>G
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.347-46A>G
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.587-46A>G
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.394-46A>G
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.435-46A>G
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2261T>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10141
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15213
  bin: 3.25e1
  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: 2665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP

12-56549158-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56549158
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56549158
    reference: chr 12
allele count: 2
allele frequency: 1.653083827880912e-5
allele num: 120986
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.347-45T>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.347-45T>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.435-45T>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.347-45T>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.587-45T>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.347-45T>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.394-45T>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2260A>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9437
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

12-56549159-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56549159
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56549159
    reference: chr 12
allele count: 1
allele frequency: 8.265145879824779e-6
allele num: 120990
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.347-44G>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.347-44G>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.347-44G>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.347-44G>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.394-44G>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.587-44G>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.435-44G>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2259C>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1628
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9436
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

12-56549160-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56549160
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56549160
    reference: chr 12
allele count: 1
allele frequency: 8.265145879824779e-6
allele num: 120990
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.347-43T>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2258A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.394-43T>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.347-43T>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.587-43T>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.347-43T>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.435-43T>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.347-43T>A
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10419
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43500
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: T
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

12-56549165-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56549165
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56549165
    reference: chr 12
allele count: 2
allele frequency: 1.653220473482343e-5
allele num: 120976
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.347-38C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.347-38C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.347-38C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.394-38C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.347-38C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.435-38C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2253G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.587-38C>T
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1943
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-56549166-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56549166
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56549166
    reference: chr 12
allele count: 1
allele frequency: 8.263506701703935e-6
allele num: 121014
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.435-37T>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.394-37T>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.347-37T>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.587-37T>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.347-37T>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2252A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.347-37T>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.347-37T>A
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29148
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  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: 271
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-56549174-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56549174
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56549174
    reference: chr 12
allele count: 1
allele frequency: 8.261868173631421e-6
allele num: 121038
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.435-29C>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.347-29C>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.347-29C>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.347-29C>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.587-29C>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.394-29C>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.347-29C>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2244G>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15275
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9495
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum

12-56549186-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56549186
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56549186
    reference: chr 12
allele count: 6
allele frequency: 4.950086626515964e-5
allele num: 121210
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.347-17C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.394-17C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.347-17C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.587-17C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.435-17C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.347-17C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.347-17C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2232G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9530
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1957
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

12-56549195-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56549195
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56549195
    reference: chr 12
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.435-8A>G
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.347-8A>G
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2223T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.394-8A>G
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.347-8A>G
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.587-8A>G
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.347-8A>G
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.347-8A>G
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: c.347-8A>G
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

12-56549205-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56549205
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56549205
    reference: chr 12
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2213G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.589C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.396C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.349C>T
  hgvsp: ENST00000552568.1:c.349C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.349C>T
  hgvsp: ENST00000207437.5:c.349C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.349C>T
  hgvsp: ENST00000553066.1:c.349C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.349C>T
  hgvsp: ENST00000550443.1:c.349C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.437C>T
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1963
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
hgvs: c.349C>T
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: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum

12-56549212-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56549212
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56549212
    reference: chr 12
allele count: 2
allele frequency: 1.648043772042586e-5
allele num: 121356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.356C>T
  hgvsp: ENSP00000446643.1:p.Ser119Leu
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.596C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.356C>T
  hgvsp: ENSP00000450385.1:p.Ser119Leu
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.444C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2206G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.356C>T
  hgvsp: ENSP00000446965.1:p.Ser119Leu
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.356C>T
  hgvsp: ENSP00000207437.5:p.Ser119Leu
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.403C>T
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11747
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46079
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9566
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1963
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser119Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum

12-56549213-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56549213
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56549213
    reference: chr 12
allele count: 5
allele frequency: 4.119973632168754e-5
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2205C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.357G>A
  hgvsp: ENST00000550443.1:c.357G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.597G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.357G>A
  hgvsp: ENST00000553066.1:c.357G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.357G>A
  hgvsp: ENST00000207437.5:c.357G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.404G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.445G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.357G>A
  hgvsp: ENST00000552568.1:c.357G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46079
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser119Ser
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: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD

12-56549214-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56549214
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56549214
    reference: chr 12
allele count: 2
allele frequency: 1.647935137272997e-5
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.358C>T
  hgvsp: ENSP00000446643.1:p.Arg120Trp
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.358C>T
  hgvsp: ENSP00000207437.5:p.Arg120Trp
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.598C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.358C>T
  hgvsp: ENSP00000446965.1:p.Arg120Trp
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.446C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.358C>T
  hgvsp: ENSP00000450385.1:p.Arg120Trp
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2204G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.405C>T
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg120Trp
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

12-56549217-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56549217
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56549217
    reference: chr 12
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.361C>T
  hgvsp: ENSP00000446643.1:p.Arg121Cys
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2201G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.449C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.361C>T
  hgvsp: ENSP00000446965.1:p.Arg121Cys
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.408C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.361C>T
  hgvsp: ENSP00000450385.1:p.Arg121Cys
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.361C>T
  hgvsp: ENSP00000207437.5:p.Arg121Cys
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.601C>T
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg121Cys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-56549218-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56549218
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56549218
    reference: chr 12
allele count: 7
allele frequency: 5.767677932864229e-5
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.602G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.362G>A
  hgvsp: ENSP00000207437.5:p.Arg121His
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.362G>A
  hgvsp: ENSP00000446643.1:p.Arg121His
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2200C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.362G>A
  hgvsp: ENSP00000450385.1:p.Arg121His
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.409G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.362G>A
  hgvsp: ENSP00000446965.1:p.Arg121His
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.450G>A
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46135
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg121His
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

12-56549219-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56549219
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56549219
    reference: chr 12
allele count: 7
allele frequency: 5.767487847079179e-5
allele num: 121370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.363T>C
  hgvsp: ENST00000550443.1:c.363T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.410T>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.451T>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.363T>C
  hgvsp: ENST00000553066.1:c.363T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2199A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.363T>C
  hgvsp: ENST00000552568.1:c.363T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.603T>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.363T>C
  hgvsp: ENST00000207437.5:c.363T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9583
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg121Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

12-56549220-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56549220
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56549220
    reference: chr 12
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.364G>A
  hgvsp: ENSP00000207437.5:p.Val122Met
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.452G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.411G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.364G>A
  hgvsp: ENSP00000446643.1:p.Val122Met
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.604G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.364G>A
  hgvsp: ENSP00000446965.1:p.Val122Met
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.364G>A
  hgvsp: ENSP00000450385.1:p.Val122Met
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2198C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29955
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val122Met
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

12-56549234-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56549234
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56549234
    reference: chr 12
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.378T>G
  hgvsp: ENST00000207437.5:c.378T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.378T>G
  hgvsp: ENST00000552568.1:c.378T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.425T>G
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.378T>G
  hgvsp: ENST00000550443.1:c.378T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.378T>G
  hgvsp: ENST00000553066.1:c.378T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.466T>G
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.618T>G
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2184A>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29968
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9587
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46187
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr126Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP

12-56549234-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56549234
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56549234
    reference: chr 12
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.378T>C
  hgvsp: ENST00000553066.1:c.378T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.378T>C
  hgvsp: ENST00000552568.1:c.378T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.425T>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.378T>C
  hgvsp: ENST00000550443.1:c.378T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.466T>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.618T>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.378T>C
  hgvsp: ENST00000207437.5:c.378T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2184A>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr126Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

12-56549243-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56549243
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56549243
    reference: chr 12
allele count: 2
allele frequency: 1.64766361299677e-5
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.387C>T
  hgvsp: ENST00000207437.5:c.387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.627C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.387C>T
  hgvsp: ENST00000552568.1:c.387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.434C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.387C>T
  hgvsp: ENST00000550443.1:c.387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2175G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.387C>T
  hgvsp: ENST00000553066.1:c.387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.475C>T
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro129Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

12-56549244-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56549244
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56549244
    reference: chr 12
allele count: 2
allele frequency: 1.64766361299677e-5
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2174T>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.388A>T
  hgvsp: ENSP00000446643.1:p.Met130Leu
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.435A>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.388A>T
  hgvsp: ENSP00000446965.1:p.Met130Leu
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.388A>T
  hgvsp: ENSP00000207437.5:p.Met130Leu
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.628A>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.388A>T
  hgvsp: ENSP00000450385.1:p.Met130Leu
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.476A>T
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46190
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Met130Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff

12-56549245-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56549245
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56549245
    reference: chr 12
allele count: 3
allele frequency: 2.471454698235381e-5
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.436T>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2173A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.629T>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.389T>A
  hgvsp: ENSP00000450385.1:p.Met130Lys
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.389T>A
  hgvsp: ENSP00000207437.5:p.Met130Lys
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.477T>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.389T>A
  hgvsp: ENSP00000446643.1:p.Met130Lys
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.389T>A
  hgvsp: ENSP00000446965.1:p.Met130Lys
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11741
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Met130Lys
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

12-56549251-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56549251
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56549251
    reference: chr 12
allele count: 4
allele frequency: 3.295381522795802e-5
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.395A>G
  hgvsp: ENSP00000207437.5:p.Gln132Arg
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2167T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.483A>G
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.395A>G
  hgvsp: ENSP00000446965.1:p.Gln132Arg
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.395A>G
  hgvsp: ENSP00000446643.1:p.Gln132Arg
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.395A>G
  hgvsp: ENSP00000450385.1:p.Gln132Arg
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.442A>G
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.635A>G
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29989
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9591
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln132Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD

12-56549265-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56549265
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56549265
    reference: chr 12
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.456A>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.409A>T
  hgvsp: ENSP00000450385.1:p.Asn137Tyr
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.497A>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.649A>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.409A>T
  hgvsp: ENSP00000446643.1:p.Asn137Tyr
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.409A>T
  hgvsp: ENSP00000446965.1:p.Asn137Tyr
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.409A>T
  hgvsp: ENSP00000207437.5:p.Asn137Tyr
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2153T>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1631
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46177
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asn137Tyr
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum

12-56549268-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56549268
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56549268
    reference: chr 12
allele count: 2
allele frequency: 1.647907980818351e-5
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.459C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.412C>T
  hgvsp: ENSP00000450385.1:p.Arg138Ter
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.500C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.412C>T
  hgvsp: ENSP00000446965.1:p.Arg138Ter
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.412C>T
  hgvsp: ENSP00000207437.5:p.Arg138Ter
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.412C>T
  hgvsp: ENSP00000446643.1:p.Arg138Ter
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2150G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.652C>T
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15330
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg138Ter
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

12-56549269-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56549269
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56549269
    reference: chr 12
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.413G>C
  hgvsp: ENSP00000450385.1:p.Arg138Pro
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.501G>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.413G>C
  hgvsp: ENSP00000207437.5:p.Arg138Pro
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.653G>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.460G>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.413G>C
  hgvsp: ENSP00000446965.1:p.Arg138Pro
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.413G>C
  hgvsp: ENSP00000446643.1:p.Arg138Pro
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2149C>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg138Pro
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-56549281-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56549281
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56549281
    reference: chr 12
allele count: 19
allele frequency: 1.565899650557131e-4
allele num: 121336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.665C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.421+4C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.425C>T
  hgvsp: ENSP00000446643.1:p.Thr142Ile
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2137G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.425C>T
  hgvsp: ENSP00000207437.5:p.Thr142Ile
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.425C>T
  hgvsp: ENSP00000450385.1:p.Thr142Ile
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.472C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.513C>T
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1960
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 9.75e1
  variant carriers: 19
hgvs: p.Thr142Ile
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD

12-56549292-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56549292
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56549292
    reference: chr 12
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.436T>C
  hgvsp: ENSP00000207437.5:p.Tyr146His
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.436T>C
  hgvsp: ENSP00000446643.1:p.Tyr146His
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2126A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.483T>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.436T>C
  hgvsp: ENSP00000450385.1:p.Tyr146His
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.676T>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.524T>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.421+15T>C
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9583
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Tyr146His
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

12-56549302-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56549302
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56549302
    reference: chr 12
allele count: 2
allele frequency: 1.64923970049807e-5
allele num: 121268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.493G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.446G>A
  hgvsp: ENSP00000207437.5:p.Gly149Glu
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.534G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.446G>A
  hgvsp: ENSP00000446643.1:p.Gly149Glu
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2116C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.446G>A
  hgvsp: ENSP00000450385.1:p.Gly149Glu
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.686G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.421+25G>A
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9567
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly149Glu
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

12-56549307-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56549307
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56549307
    reference: chr 12
allele count: 2
allele frequency: 1.649593375233005e-5
allele num: 121242
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.421+30C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.451C>T
  hgvsp: ENSP00000207437.5:p.Arg151Cys
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.451C>T
  hgvsp: ENSP00000446643.1:p.Arg151Cys
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.539C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.691C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.451C>T
  hgvsp: ENSP00000450385.1:p.Arg151Cys
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.498C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2111G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29977
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg151Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: C
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

12-56549308-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56549308
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56549308
    reference: chr 12
allele count: 3
allele frequency: 2.474430880897394e-5
allele num: 121240
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.452G>A
  hgvsp: ENSP00000207437.5:p.Arg151His
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.421+31G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.499G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.692G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.452G>A
  hgvsp: ENSP00000446643.1:p.Arg151His
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2110C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.452G>A
  hgvsp: ENSP00000450385.1:p.Arg151His
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.540G>A
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29972
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg151His
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ

12-56549308-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56549308
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56549308
    reference: chr 12
allele count: 1
allele frequency: 8.248102936324645e-6
allele num: 121240
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.692G>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.452G>C
  hgvsp: ENSP00000450385.1:p.Arg151Pro
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.421+31G>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.452G>C
  hgvsp: ENSP00000446643.1:p.Arg151Pro
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.499G>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.452G>C
  hgvsp: ENSP00000207437.5:p.Arg151Pro
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.540G>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2110C>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg151Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

12-56549310-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56549310
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56549310
    reference: chr 12
allele count: 1
allele frequency: 8.249191579225235e-6
allele num: 121224
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.454G>C
  hgvsp: ENSP00000207437.5:p.Val152Leu
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2108C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.542G>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.454G>C
  hgvsp: ENSP00000446643.1:p.Val152Leu
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.421+33G>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.454G>C
  hgvsp: ENSP00000450385.1:p.Val152Leu
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.694G>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.501G>C
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11429
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15308
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val152Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

12-56549318-CAAGG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56549318
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56549314
    reference: chr 12
allele count: 1
allele frequency: 8.252323028932645e-6
allele num: 121178
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.552_555delAGGA
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.464_467delAGGA
  hgvsp: ENSP00000446643.1:p.Lys155ArgfsTer22
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.704_707delAGGA
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.421+43_421+46delAGGA
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.511_514delAGGA
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.464_467delAGGA
  hgvsp: ENSP00000450385.1:p.Lys155ArgfsTer22
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.464_467delAGGA
  hgvsp: ENSP00000207437.5:p.Lys155ArgfsTer22
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2096_350+2099delCCTT
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15337
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9528
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1941
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys155ArgfsTer22
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: CAAGG
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-56549324-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56549324
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56549324
    reference: chr 12
allele count: 1
allele frequency: 8.255865792645674e-6
allele num: 121126
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.515G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.556G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.421+47G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.468G>A
  hgvsp: ENST00000207437.5:c.468G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.468G>A
  hgvsp: ENST00000553066.1:c.468G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2094C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.468G>A
  hgvsp: ENST00000550443.1:c.468G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.708G>A
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: synonymous
filter: PASS
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: 376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu156Glu
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD

12-56549330-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56549330
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56549330
    reference: chr 12
allele count: 1
allele frequency: 8.259684480052863e-6
allele num: 121070
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.521C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.474C>T
  hgvsp: ENST00000207437.5:c.474C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.562C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2088G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.421+53C>T
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.474C>T
  hgvsp: ENST00000553066.1:c.474C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.474C>T
  hgvsp: ENST00000550443.1:c.474C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.714C>T
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  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: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11043
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45264
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asn158Asn
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD

12-56549331-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56549331
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56549331
    reference: chr 12
allele count: 1
allele frequency: 8.259275166011431e-6
allele num: 121076
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2087C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.715G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.522G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.475G>A
  hgvsp: ENSP00000207437.5:p.Gly159Ser
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.421+54G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.475G>A
  hgvsp: ENSP00000446643.1:p.Gly159Ser
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.563G>A
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.475G>A
  hgvsp: ENSP00000450385.1:p.Gly159Ser
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9485
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly159Ser
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD

12-56549331-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56549331
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56549331
    reference: chr 12
allele count: 5
allele frequency: 4.129637583005715e-5
allele num: 121076
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257809
  ensembl transcript: ENST00000548731
  gene symbol: RP11-603J24.14
  hgvsc: ENST00000548731.1:n.350+2087C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446643
  ensembl transcript: ENST00000550443
  gene symbol: MYL6B
  hgvsc: ENST00000550443.1:c.475G>C
  hgvsp: ENSP00000446643.1:p.Gly159Arg
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000550152
  gene symbol: MYL6B
  hgvsc: ENST00000550152.1:n.522G>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000446965
  ensembl transcript: ENST00000552568
  gene symbol: MYL6B
  hgvsc: ENST00000552568.1:c.421+54G>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000450385
  ensembl transcript: ENST00000553066
  gene symbol: MYL6B
  hgvsc: ENST00000553066.1:c.475G>C
  hgvsp: ENSP00000450385.1:p.Gly159Arg
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196465
  ensembl protein: ENSP00000207437
  ensembl transcript: ENST00000207437
  gene symbol: MYL6B
  hgvsc: ENST00000207437.5:c.475G>C
  hgvsp: ENSP00000207437.5:p.Gly159Arg
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000549178
  gene symbol: MYL6B
  hgvsc: ENST00000549178.1:n.715G>C
  variant of: http://identifiers.org/hgnc/29823
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196465
  ensembl transcript: ENST00000405661
  gene symbol: MYL6B
  hgvsc: ENST00000405661.4:n.563G>C
  variant of: http://identifiers.org/hgnc/29823
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly159Arg
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 73
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10601
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1719
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3128
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30152
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3223
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3190
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66078
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14654
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.632055480639569e-5
allele num: 10382
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.675313e6

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.17e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.68e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.602e0

QD
type: SiteQuality
SIO_000300: 1.322e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

GenotypeQuality
all individuals: 3128
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1466
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10601
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1719
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3190
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30152
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3977
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51336299524804e-5
allele num: 66078
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.364815067558346e-4
allele num: 14654
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.322e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.91e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-1

DP
type: SiteQuality
SIO_000300: 2.675313e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.602e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1800
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1325
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10987
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3191
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1719
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3228
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4013
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14830
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510574018126888e-5
allele num: 66200
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.522e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.212e0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.45e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-1

QD
type: SiteQuality
SIO_000300: 1.566e1

DP
type: SiteQuality
SIO_000300: 2.67873e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e0

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1723
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1817
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3227
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 193
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4083
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30149
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 61
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.48760866744518e-5
allele num: 15414
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66364
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.76e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-1

QD
type: SiteQuality
SIO_000300: 1.279e1

FS
type: SiteQuality
SIO_000300: 1.085e0

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

DP
type: SiteQuality
SIO_000300: 2.690182e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.051e0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4142
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1834
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12470
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3143
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1718
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3232
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66524
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.578e0

VQSLOD
type: SiteQuality
SIO_000300: 5.649999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.64e0

QD
type: SiteQuality
SIO_000300: 1.478e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

DP
type: SiteQuality
SIO_000300: 2.70083e6

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3232
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1719
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4157
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30148
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1840
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3190
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12596
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.507617874207411e-5
allele num: 66554
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16054
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.366e1

DP
type: SiteQuality
SIO_000300: 2.701727e6

MQ
type: SiteQuality
SIO_000300: 5.949e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.91e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e-1

GenotypeQuality
all individuals: 1842
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4181
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3232
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16192
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.961e1

QD
type: SiteQuality
SIO_000300: 1.302e1

FS
type: SiteQuality
SIO_000300: 6.409e0

DP
type: SiteQuality
SIO_000300: 2.703271e6

VQSLOD
type: SiteQuality
SIO_000300: 4.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.872e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.252e0

MQRankSum
type: SiteQuality
SIO_000300: 9.86e-1

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 245
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variant carriers: 0

GenotypeQuality
all individuals: 3153
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30146
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12823
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501456412720339e-5
allele num: 66602
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16242
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.363e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

FS
type: SiteQuality
SIO_000300: 8.79e-1

QD
type: SiteQuality
SIO_000300: 1.328e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.88e0

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.703982e6

MQ
type: SiteQuality
SIO_000300: 5.961e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1835
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variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.500510173458976e-5
allele num: 66644
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
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ReadPosRankSum
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DP
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MQ
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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SIO_000300: -2.29e-1

QD
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FS
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.350378105869643e-4
allele num: 66648
num of homozygotes: 0

InbreedingCoeff
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DP
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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QD
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FS
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VQSLOD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10404
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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Latino
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South Asian
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East Asian
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QD
type: SiteQuality
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BaseQRankSum
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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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VQSLOD
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ReadPosRankSum
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MQ
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SIO_000300: 5.952e1

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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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66646
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East Asian
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South Asian
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Other
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African
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allele num: 10404
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BaseQRankSum
type: SiteQuality
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FS
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SIO_000300: 1.163e0

ClippingRankSum
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ReadPosRankSum
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VQSLOD
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MQRankSum
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DP
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InbreedingCoeff
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MQ
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 20

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

Latino
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allele num: 11578
num of homozygotes: 0

Other
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.500555205426008e-5
allele num: 66642
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East Asian
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allele frequency: 1.964409521608505e-3
allele num: 8654
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African
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South Asian
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allele frequency: 6.105751618024179e-5
allele num: 16378
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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DP
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QD
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BaseQRankSum
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FS
type: SiteQuality
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ReadPosRankSum
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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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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

Latino
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South Asian
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Other
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European (Non-Finnish)
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African
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European (Finnish)
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MQRankSum
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ClippingRankSum
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FS
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MQ
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DP
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QD
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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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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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Non-Finnish)
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allele frequency: 6.90234679791129e-4
allele num: 66644
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Latino
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Other
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European (Finnish)
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South Asian
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QD
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DP
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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FS
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VQSLOD
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MQ
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ClippingRankSum
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ReadPosRankSum
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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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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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Other
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European (Finnish)
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South Asian
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African
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European (Non-Finnish)
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InbreedingCoeff
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DP
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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QD
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FS
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MQ
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ClippingRankSum
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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European (Finnish)
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Latino
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East Asian
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African
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ClippingRankSum
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MQRankSum
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VQSLOD
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FS
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BaseQRankSum
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MQ
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ReadPosRankSum
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DP
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.501185936890143e-5
allele num: 66614
num of homozygotes: 0

South Asian
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East Asian
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Latino
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allele frequency: 0.0e0
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African
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ReadPosRankSum
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DP
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VQSLOD
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InbreedingCoeff
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FS
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MQ
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BaseQRankSum
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MQRankSum
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.501681883709755e-5
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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East Asian
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allele frequency: 0.0e0
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African
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FS
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QD
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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BaseQRankSum
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DP
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MQRankSum
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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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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

Latino
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Other
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 4.509515076812073e-5
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European (Finnish)
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allele frequency: 0.0e0
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African
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InbreedingCoeff
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ReadPosRankSum
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QD
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FS
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MQ
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BaseQRankSum
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MQRankSum
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DP
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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allele frequency: 0.0e0
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South Asian
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 8.638562543192812e-5
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.503442884204829e-5
allele num: 66514
num of homozygotes: 0

VQSLOD
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QD
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ReadPosRankSum
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FS
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BaseQRankSum
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MQ
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DP
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SIO_000300: 2.679194e6

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
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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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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

Other
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.503442884204829e-5
allele num: 66514
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DP
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MQRankSum
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
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MQ
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QD
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VQSLOD
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ReadPosRankSum
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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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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66442
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East Asian
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Other
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European (Finnish)
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African
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Latino
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South Asian
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FS
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MQ
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BaseQRankSum
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QD
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ReadPosRankSum
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ClippingRankSum
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DP
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VQSLOD
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MQRankSum
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InbreedingCoeff
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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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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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Latino
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European (Non-Finnish)
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African
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European (Finnish)
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South Asian
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InbreedingCoeff
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FS
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MQRankSum
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ReadPosRankSum
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MQ
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BaseQRankSum
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QD
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VQSLOD
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ClippingRankSum
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DP
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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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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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Other
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East Asian
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South Asian
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European (Non-Finnish)
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Latino
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BaseQRankSum
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MQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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InbreedingCoeff
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MQ
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DP
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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European (Finnish)
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East Asian
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African
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Other
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European (Non-Finnish)
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MQRankSum
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FS
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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QD
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DP
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MQ
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ReadPosRankSum
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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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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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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511076188461422e-5
allele num: 66178
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15238
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.652e0

FS
type: SiteQuality
SIO_000300: 9.43e0

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

MQRankSum
type: SiteQuality
SIO_000300: 2.42e-1

MQ
type: SiteQuality
SIO_000300: 6.07e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.27e-1

DP
type: SiteQuality
SIO_000300: 2.652143e6

QD
type: SiteQuality
SIO_000300: 1.309e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66066
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15022
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.885003885003885e-4
allele num: 10296
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.255e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.1e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

DP
type: SiteQuality
SIO_000300: 2.64319e6

QD
type: SiteQuality
SIO_000300: 1.249e1

FS
type: SiteQuality
SIO_000300: 8.2e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65910
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.320185614849188e-4
allele num: 8620
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14792
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.407e0

VQSLOD
type: SiteQuality
SIO_000300: -3.547e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 2.634393e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQRankSum
type: SiteQuality
SIO_000300: 1.82e0

FS
type: SiteQuality
SIO_000300: 6.850000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e0

QD
type: SiteQuality
SIO_000300: 1.56e1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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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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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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bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10108
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14262
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526111772426212e-5
allele num: 65526
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.06e-1

QD
type: SiteQuality
SIO_000300: 1.578e1

DP
type: SiteQuality
SIO_000300: 2.60462e6

FS
type: SiteQuality
SIO_000300: 2.583e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.22e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.296e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 887
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10018
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: 0
allele frequency: 0.0e0
allele num: 65190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.220216606498195e-5
allele num: 13850
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.44e0

FS
type: SiteQuality
SIO_000300: 4.77e0

VQSLOD
type: SiteQuality
SIO_000300: -3.682e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 3.408e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.647e0

DP
type: SiteQuality
SIO_000300: 2.586356e6

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 505
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variant carriers: 0

GenotypeQuality
all individuals: 227
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variant carriers: 0

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 30041
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3184
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.541782300339192e-5
allele num: 64860
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13374
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.088e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.98e-1

MQ
type: SiteQuality
SIO_000300: 5.866e1

MQRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.55e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.302e-1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.56812e6

GenotypeQuality
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variant carriers: 0

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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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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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16302
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503126503126503e-5
allele num: 66528
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.03e0

InbreedingCoeff
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MQ
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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DP
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -9.02e-1

GenotypeQuality
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variant carriers: 0

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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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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GenotypeQuality
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variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 902
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16314
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.00543984612148e-5
allele num: 66546
num of homozygotes: 0

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.64e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.675899e6

GenotypeQuality
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variant carriers: 2

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.129704548240775e-5
allele num: 16314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66546
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e0

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

GenotypeQuality
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variant carriers: 0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 222
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66544
num of homozygotes: 0

South Asian
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allele frequency: 6.127450980392157e-5
allele num: 16320
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.47e-1

InbreedingCoeff
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DP
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SIO_000300: 1.677042e6

VQSLOD
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MQ
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FS
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -4.725e0

MQRankSum
type: SiteQuality
SIO_000300: 8.03e-1

ClippingRankSum
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QD
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SIO_000300: 1.461e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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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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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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bin: 2.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.127450980392157e-5
allele num: 16320
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66542
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.843e0

DP
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.98e1

QD
type: SiteQuality
SIO_000300: 1.719e1

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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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.005710850616171e-5
allele num: 66540
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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DP
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FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -2.0e-4

BaseQRankSum
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SIO_000300: -3.052e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.76e-1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.125199068969742e-5
allele num: 16326
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.22e-1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.171e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 7.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

DP
type: SiteQuality
SIO_000300: 1.682191e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

GenotypeQuality
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variant carriers: 0

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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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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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16346
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-1

BaseQRankSum
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.446e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.695e0

DP
type: SiteQuality
SIO_000300: 1.689201e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.637e0

GenotypeQuality
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variant carriers: 6

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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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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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.825039542523421e-4
allele num: 16438
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.0016509079994e-5
allele num: 66630
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.179999999999999e-1

FS
type: SiteQuality
SIO_000300: 5.561e0

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-2

ReadPosRankSum
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.696813e6

QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
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African
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allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500285054160291e-5
allele num: 66654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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DP
type: SiteQuality
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MQRankSum
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VQSLOD
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ClippingRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
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FS
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ReadPosRankSum
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QD
type: SiteQuality
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BaseQRankSum
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SIO_000300: 4.34e0

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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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
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African
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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South Asian
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allele count: 0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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SIO_000300: 1.92e-1

InbreedingCoeff
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QD
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
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South Asian
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998860433035446e-5
allele num: 66692
num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

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

VQSLOD
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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QD
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MQ
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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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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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

East Asian
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allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

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

South Asian
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allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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MQ
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SIO_000300: 5.951e1

DP
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InbreedingCoeff
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VQSLOD
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FS
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
allele num: 16510
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East Asian
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10404
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European (Non-Finnish)
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allele count: 2
allele frequency: 2.998590662388677e-5
allele num: 66698
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

MQRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66696
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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DP
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ClippingRankSum
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MQ
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MQRankSum
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VQSLOD
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QD
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InbreedingCoeff
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SIO_000300: 1.0e-4

FS
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: -5.254e0

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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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 3.844675124951942e-4
allele num: 10404
num of homozygotes: 0

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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num of homozygotes: 0

South Asian
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.497751124437781e-5
allele num: 66700
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.68e-1

InbreedingCoeff
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MQRankSum
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FS
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BaseQRankSum
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DP
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VQSLOD
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

European (Non-Finnish)
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allele count: 7
allele frequency: 1.049412329095706e-4
allele num: 66704
num of homozygotes: 0

African
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East Asian
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num of homozygotes: 0

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

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

South Asian
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allele frequency: 0.0e0
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InbreedingCoeff
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DP
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MQRankSum
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BaseQRankSum
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FS
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QD
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VQSLOD
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ReadPosRankSum
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SIO_000300: 3.82e-1

MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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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 count: 0
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allele num: 66704
num of homozygotes: 0

South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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Other
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Latino
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ReadPosRankSum
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FS
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DP
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InbreedingCoeff
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QD
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ClippingRankSum
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BaseQRankSum
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MQ
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MQRankSum
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VQSLOD
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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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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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East Asian
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European (Non-Finnish)
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allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

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

Other
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South Asian
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East Asian
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Latino
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BaseQRankSum
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InbreedingCoeff
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DP
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VQSLOD
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MQ
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ReadPosRankSum
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FS
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MQRankSum
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele 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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East Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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DP
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VQSLOD
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MQ
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BaseQRankSum
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FS
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QD
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InbreedingCoeff
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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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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.817080557238038e-4
allele num: 16510
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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Other
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DP
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InbreedingCoeff
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FS
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BaseQRankSum
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MQ
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MQRankSum
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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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: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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East Asian
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Other
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Latino
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allele frequency: 3.454828122300915e-4
allele num: 11578
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African
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South Asian
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FS
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VQSLOD
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ClippingRankSum
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MQ
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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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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allele frequency: 0.0e0
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African
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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MQ
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FS
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QD
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DP
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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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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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African
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Latino
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Other
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European (Non-Finnish)
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allele frequency: 2.998500749625187e-5
allele num: 66700
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South Asian
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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QD
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VQSLOD
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FS
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MQ
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MQRankSum
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InbreedingCoeff
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DP
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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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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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African
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European (Finnish)
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East Asian
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Other
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Latino
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MQRankSum
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BaseQRankSum
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QD
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MQ
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DP
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InbreedingCoeff
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VQSLOD
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FS
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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South Asian
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European (Finnish)
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East Asian
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Other
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ClippingRankSum
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BaseQRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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FS
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DP
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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East Asian
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African
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South Asian
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FS
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MQ
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DP
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
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QD
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InbreedingCoeff
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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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GenotypeQuality
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South Asian
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East Asian
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European (Finnish)
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African
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European (Non-Finnish)
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DP
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QD
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InbreedingCoeff
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FS
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MQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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ClippingRankSum
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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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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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GenotypeQuality
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Other
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.217730150998539e-4
allele num: 16424
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.697186e6

FS
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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QD
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InbreedingCoeff
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SIO_000300: 3.13e-2

ClippingRankSum
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SIO_000300: 1.01e0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.500015000150001e-5
allele num: 66666
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
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allele frequency: 1.218175173589962e-4
allele num: 16418
num of homozygotes: 0

MQRankSum
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ReadPosRankSum
type: SiteQuality
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DP
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SIO_000300: 1.697202e6

BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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FS
type: SiteQuality
SIO_000300: 5.24e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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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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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.24e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.81e-1

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.04e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.308e1

DP
type: SiteQuality
SIO_000300: 1.697202e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

GenotypeQuality
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variant carriers: 0

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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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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GenotypeQuality
all individuals: 244
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variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500195025353296e-5
allele num: 66658
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.942e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.467e-1

QD
type: SiteQuality
SIO_000300: 1.463e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.21e-2

FS
type: SiteQuality
SIO_000300: 2.275e0

MQRankSum
type: SiteQuality
SIO_000300: 8.090000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.696123e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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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GenotypeQuality
all individuals: 170
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 1.619e1

VQSLOD
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SIO_000300: 3.38e0

DP
type: SiteQuality
SIO_000300: 1.694923e6

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.492e0

MQRankSum
type: SiteQuality
SIO_000300: -6.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.29e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.36e-1

GenotypeQuality
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variant carriers: 0

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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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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GenotypeQuality
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variant carriers: 0

African
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allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16344
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66630
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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Other
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allele frequency: 0.0e0
allele num: 902
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East Asian
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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DP
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ClippingRankSum
type: SiteQuality
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FS
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MQ
type: SiteQuality
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VQSLOD
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QD
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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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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele num: 16300
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East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Latino
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66618
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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MQRankSum
type: SiteQuality
SIO_000300: -7.61e-1

ReadPosRankSum
type: SiteQuality
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DP
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VQSLOD
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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FS
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MQ
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

South Asian
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 9.611687812379854e-5
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Latino
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East Asian
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European (Finnish)
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BaseQRankSum
type: SiteQuality
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MQ
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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FS
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QD
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DP
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VQSLOD
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