19-19260025-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260025
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260025
    reference: chr 19
allele count: 1
allele frequency: 8.626936747299768e-6
allele num: 115916
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.258+10G>C
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.258+10G>C
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*329+10G>C
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.258+10G>C
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.267+1G>C
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.309+10G>C
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*329+10G>C
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.258+10G>C
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.258+10G>C
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.258+10G>C
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.417+10G>C
  variant of: http://identifiers.org/hgnc/39979
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
hgvs: c.267+1G>C
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

19-19260037-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260037
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260037
    reference: chr 19
allele count: 1
allele frequency: 8.464390309965973e-6
allele num: 118142
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.256G>A
  hgvsp: ENSP00000473308.2:p.Glu86Lys
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.256G>A
  hgvsp: ENSP00000386480.1:p.Glu86Lys
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.256G>A
  hgvsp: ENSP00000162023.5:p.Glu86Lys
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.256G>A
  hgvsp: ENSP00000386784.2:p.Glu86Lys
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.307G>A
  hgvsp: ENSP00000454967.3:p.Glu103Lys
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*327G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.256G>A
  hgvsp: ENSP00000390762.2:p.Glu86Lys
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.256G>A
  hgvsp: ENSP00000386374.1:p.Glu86Lys
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.256G>A
  hgvsp: ENSP00000402154.2:p.Glu86Lys
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.415G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*327G>A
  variant of: http://identifiers.org/hgnc/39979
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34146
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu86Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

19-19260038-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260038
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260038
    reference: chr 19
allele count: 6
allele frequency: 5.061838797307102e-5
allele num: 118534
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.306C>T
  hgvsp: ENST00000514819.3:c.306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.255C>T
  hgvsp: ENST00000409224.1:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.255C>T
  hgvsp: ENST00000410050.1:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.255C>T
  hgvsp: ENST00000444486.3:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*326C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.255C>T
  hgvsp: ENST00000162023.5:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.255C>T
  hgvsp: ENST00000602424.2:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.255C>T
  hgvsp: ENST00000409447.2:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*326C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.414C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.255C>T
  hgvsp: ENST00000424583.2:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34236
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5844
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu85Leu
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD

19-19260058-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260058
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260058
    reference: chr 19
allele count: 1
allele frequency: 8.315178526882972e-6
allele num: 120262
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*306C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.235C>T
  hgvsp: ENSP00000386784.2:p.Arg79Cys
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.235C>T
  hgvsp: ENSP00000402154.2:p.Arg79Cys
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.235C>T
  hgvsp: ENSP00000386374.1:p.Arg79Cys
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.235C>T
  hgvsp: ENSP00000162023.5:p.Arg79Cys
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.394C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.235C>T
  hgvsp: ENSP00000390762.2:p.Arg79Cys
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.235C>T
  hgvsp: ENSP00000386480.1:p.Arg79Cys
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.235C>T
  hgvsp: ENSP00000473308.2:p.Arg79Cys
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*306C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.286C>T
  hgvsp: ENSP00000454967.3:p.Arg96Cys
  variant of: http://identifiers.org/hgnc/39979
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34229
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15385
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg79Cys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

19-19260059-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260059
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260059
    reference: chr 19
allele count: 1
allele frequency: 8.311446524153063e-6
allele num: 120316
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*305C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.234C>T
  hgvsp: ENST00000444486.3:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.234C>T
  hgvsp: ENST00000409447.2:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.234C>T
  hgvsp: ENST00000424583.2:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.234C>T
  hgvsp: ENST00000162023.5:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.234C>T
  hgvsp: ENST00000409224.1:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.285C>T
  hgvsp: ENST00000514819.3:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.393C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.234C>T
  hgvsp: ENST00000602424.2:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.234C>T
  hgvsp: ENST00000410050.1:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*305C>T
  variant of: http://identifiers.org/hgnc/39979
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6470
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser78Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

19-19260064-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260064
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260064
    reference: chr 19
allele count: 1
allele frequency: 8.298204268596276e-6
allele num: 120508
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.229G>A
  hgvsp: ENSP00000386374.1:p.Glu77Lys
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.229G>A
  hgvsp: ENSP00000390762.2:p.Glu77Lys
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.229G>A
  hgvsp: ENSP00000473308.2:p.Glu77Lys
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*300G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.229G>A
  hgvsp: ENSP00000402154.2:p.Glu77Lys
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.229G>A
  hgvsp: ENSP00000386480.1:p.Glu77Lys
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.280G>A
  hgvsp: ENSP00000454967.3:p.Glu94Lys
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.388G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.229G>A
  hgvsp: ENSP00000162023.5:p.Glu77Lys
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.229G>A
  hgvsp: ENSP00000386784.2:p.Glu77Lys
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*300G>A
  variant of: http://identifiers.org/hgnc/39979
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15730
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu77Lys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

19-19260065-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260065
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260065
    reference: chr 19
allele count: 3
allele frequency: 2.487479685582568e-5
allele num: 120604
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*299C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.228C>T
  hgvsp: ENST00000602424.2:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.228C>T
  hgvsp: ENST00000162023.5:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.228C>T
  hgvsp: ENST00000444486.3:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.228C>T
  hgvsp: ENST00000424583.2:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.228C>T
  hgvsp: ENST00000409224.1:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.228C>T
  hgvsp: ENST00000409447.2:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.387C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*299C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.279C>T
  hgvsp: ENST00000514819.3:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.228C>T
  hgvsp: ENST00000410050.1:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6577
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His76His
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

19-19260068-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260068
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260068
    reference: chr 19
allele count: 1
allele frequency: 8.285141427364165e-6
allele num: 120698
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*296C>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.225C>G
  hgvsp: ENST00000444486.3:c.225C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.384C>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.225C>G
  hgvsp: ENST00000409447.2:c.225C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.225C>G
  hgvsp: ENST00000410050.1:c.225C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.225C>G
  hgvsp: ENST00000602424.2:c.225C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.225C>G
  hgvsp: ENST00000162023.5:c.225C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.225C>G
  hgvsp: ENST00000409224.1:c.225C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*296C>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.225C>G
  hgvsp: ENST00000424583.2:c.225C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.276C>G
  hgvsp: ENST00000514819.3:c.276C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/39979
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro75Pro
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

19-19260073-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260073
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260073
    reference: chr 19
allele count: 1
allele frequency: 8.275268532463878e-6
allele num: 120842
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.220G>A
  hgvsp: ENSP00000386374.1:p.Glu74Lys
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.220G>A
  hgvsp: ENSP00000402154.2:p.Glu74Lys
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.271G>A
  hgvsp: ENSP00000454967.3:p.Glu91Lys
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.220G>A
  hgvsp: ENSP00000473308.2:p.Glu74Lys
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.220G>A
  hgvsp: ENSP00000386784.2:p.Glu74Lys
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.379G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.220G>A
  hgvsp: ENSP00000162023.5:p.Glu74Lys
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.220G>A
  hgvsp: ENSP00000390762.2:p.Glu74Lys
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.220G>A
  hgvsp: ENSP00000386480.1:p.Glu74Lys
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*291G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*291G>A
  variant of: http://identifiers.org/hgnc/39979
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6667
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu74Lys
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

19-19260074-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260074
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260074
    reference: chr 19
allele count: 45
allele frequency: 3.723008190618019e-4
allele num: 120870
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.378C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*290C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.270C>T
  hgvsp: ENST00000514819.3:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.219C>T
  hgvsp: ENST00000444486.3:c.219C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.219C>T
  hgvsp: ENST00000602424.2:c.219C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.219C>T
  hgvsp: ENST00000424583.2:c.219C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.219C>T
  hgvsp: ENST00000410050.1:c.219C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*290C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.219C>T
  hgvsp: ENST00000409224.1:c.219C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.219C>T
  hgvsp: ENST00000409447.2:c.219C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.219C>T
  hgvsp: ENST00000162023.5:c.219C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16057
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6692
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
hgvs: p.Ser73Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

19-19260095-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260095
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260095
    reference: chr 19
allele count: 2
allele frequency: 1.650083329208125e-5
allele num: 121206
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.198G>A
  hgvsp: ENST00000444486.3:c.198G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.198G>A
  hgvsp: ENST00000602424.2:c.198G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.198G>A
  hgvsp: ENST00000409447.2:c.198G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.198G>A
  hgvsp: ENST00000424583.2:c.198G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.198G>A
  hgvsp: ENST00000410050.1:c.198G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.249G>A
  hgvsp: ENST00000514819.3:c.249G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*269G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.198G>A
  hgvsp: ENST00000162023.5:c.198G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*269G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.357G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.198G>A
  hgvsp: ENST00000409224.1:c.198G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33857
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu66Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

19-19260102-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260102
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260102
    reference: chr 19
allele count: 2
allele frequency: 1.649484536082474e-5
allele num: 121250
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.191G>A
  hgvsp: ENSP00000473308.2:p.Arg64His
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.191G>A
  hgvsp: ENSP00000386374.1:p.Arg64His
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.191G>A
  hgvsp: ENSP00000390762.2:p.Arg64His
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.191G>A
  hgvsp: ENSP00000402154.2:p.Arg64His
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.191G>A
  hgvsp: ENSP00000386480.1:p.Arg64His
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*262G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.191G>A
  hgvsp: ENSP00000386784.2:p.Arg64His
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.242G>A
  hgvsp: ENSP00000454967.3:p.Arg81His
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.576G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.191G>A
  hgvsp: ENSP00000162023.5:p.Arg64His
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*262G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.350G>A
  variant of: http://identifiers.org/hgnc/39979
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg64His
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

19-19260103-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260103
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260103
    reference: chr 19
allele count: 10
allele frequency: 8.247014580721778e-5
allele num: 121256
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.190C>T
  hgvsp: ENSP00000162023.5:p.Arg64Cys
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.190C>T
  hgvsp: ENSP00000473308.2:p.Arg64Cys
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.190C>T
  hgvsp: ENSP00000386784.2:p.Arg64Cys
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*261C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.241C>T
  hgvsp: ENSP00000454967.3:p.Arg81Cys
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.190C>T
  hgvsp: ENSP00000386374.1:p.Arg64Cys
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*261C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.190C>T
  hgvsp: ENSP00000402154.2:p.Arg64Cys
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.190C>T
  hgvsp: ENSP00000390762.2:p.Arg64Cys
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.190C>T
  hgvsp: ENSP00000386480.1:p.Arg64Cys
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.575C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.349C>T
  variant of: http://identifiers.org/hgnc/39979
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg64Cys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum

19-19260107-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260107
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260107
    reference: chr 19
allele count: 1
allele frequency: 8.245926512302922e-6
allele num: 121272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.186G>A
  hgvsp: ENSP00000386374.1:p.Met62Ile
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.186G>A
  hgvsp: ENSP00000162023.5:p.Met62Ile
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.186G>A
  hgvsp: ENSP00000473308.2:p.Met62Ile
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.186G>A
  hgvsp: ENSP00000386480.1:p.Met62Ile
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*257G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*257G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.237G>A
  hgvsp: ENSP00000454967.3:p.Met79Ile
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.345G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.186G>A
  hgvsp: ENSP00000386784.2:p.Met62Ile
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.186G>A
  hgvsp: ENSP00000402154.2:p.Met62Ile
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.571G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.186G>A
  hgvsp: ENSP00000390762.2:p.Met62Ile
  variant of: http://identifiers.org/hgnc/39979
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Met62Ile
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD

19-19260113-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260113
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260113
    reference: chr 19
allele count: 8
allele frequency: 6.595979750342167e-5
allele num: 121286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.231G>A
  hgvsp: ENST00000514819.3:c.231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*251G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.180G>A
  hgvsp: ENST00000409224.1:c.180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.180G>A
  hgvsp: ENST00000444486.3:c.180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.180G>A
  hgvsp: ENST00000424583.2:c.180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.180G>A
  hgvsp: ENST00000409447.2:c.180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.565G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.180G>A
  hgvsp: ENST00000162023.5:c.180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.180G>A
  hgvsp: ENST00000602424.2:c.180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.180G>A
  hgvsp: ENST00000410050.1:c.180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*251G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.339G>A
  variant of: http://identifiers.org/hgnc/39979
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr60Thr
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

19-19260114-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260114
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260114
    reference: chr 19
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.338C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.179C>T
  hgvsp: ENSP00000162023.5:p.Thr60Met
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*250C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.179C>T
  hgvsp: ENSP00000390762.2:p.Thr60Met
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.564C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.179C>T
  hgvsp: ENSP00000402154.2:p.Thr60Met
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.179C>T
  hgvsp: ENSP00000386374.1:p.Thr60Met
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.179C>T
  hgvsp: ENSP00000386480.1:p.Thr60Met
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.179C>T
  hgvsp: ENSP00000473308.2:p.Thr60Met
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*250C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.230C>T
  hgvsp: ENSP00000454967.3:p.Thr77Met
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.179C>T
  hgvsp: ENSP00000386784.2:p.Thr60Met
  variant of: http://identifiers.org/hgnc/6995
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16517
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr60Met
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD

19-19260135-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260135
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260135
    reference: chr 19
allele count: 3
allele frequency: 2.474390062849507e-5
allele num: 121242
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.158G>A
  hgvsp: ENSP00000386374.1:p.Arg53His
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.158G>A
  hgvsp: ENSP00000402154.2:p.Arg53His
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*229G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.158G>A
  hgvsp: ENSP00000162023.5:p.Arg53His
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.158G>A
  hgvsp: ENSP00000386784.2:p.Arg53His
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*229G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.158G>A
  hgvsp: ENSP00000473308.2:p.Arg53His
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.158G>A
  hgvsp: ENSP00000390762.2:p.Arg53His
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.543G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.209G>A
  hgvsp: ENSP00000454967.3:p.Arg70His
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.317G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.158G>A
  hgvsp: ENSP00000386480.1:p.Arg53His
  variant of: http://identifiers.org/hgnc/6995
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg53His
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-19260136-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260136
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260136
    reference: chr 19
allele count: 2
allele frequency: 1.649511744523621e-5
allele num: 121248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.157C>T
  hgvsp: ENSP00000386374.1:p.Arg53Cys
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.157C>T
  hgvsp: ENSP00000162023.5:p.Arg53Cys
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.157C>T
  hgvsp: ENSP00000386784.2:p.Arg53Cys
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.542C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*228C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.157C>T
  hgvsp: ENSP00000473308.2:p.Arg53Cys
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.316C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.208C>T
  hgvsp: ENSP00000454967.3:p.Arg70Cys
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.157C>T
  hgvsp: ENSP00000402154.2:p.Arg53Cys
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.157C>T
  hgvsp: ENSP00000390762.2:p.Arg53Cys
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*228C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.157C>T
  hgvsp: ENSP00000386480.1:p.Arg53Cys
  variant of: http://identifiers.org/hgnc/6995
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33355
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16515
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg53Cys
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

19-19260138-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260138
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260138
    reference: chr 19
allele count: 2
allele frequency: 1.649022129876983e-5
allele num: 121284
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.155A>G
  hgvsp: ENSP00000390762.2:p.Asn52Ser
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.155A>G
  hgvsp: ENSP00000402154.2:p.Asn52Ser
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.155A>G
  hgvsp: ENSP00000386480.1:p.Asn52Ser
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*226A>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.206A>G
  hgvsp: ENSP00000454967.3:p.Asn69Ser
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.155A>G
  hgvsp: ENSP00000386374.1:p.Asn52Ser
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.314A>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.540A>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.155A>G
  hgvsp: ENSP00000473308.2:p.Asn52Ser
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.155A>G
  hgvsp: ENSP00000386784.2:p.Asn52Ser
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.155A>G
  hgvsp: ENSP00000162023.5:p.Asn52Ser
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*226A>G
  variant of: http://identifiers.org/hgnc/39979
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16563
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn52Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

19-19260142-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260142
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260142
    reference: chr 19
allele count: 5
allele frequency: 4.122079506669525e-5
allele num: 121298
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.151G>A
  hgvsp: ENSP00000390762.2:p.Ala51Thr
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.151G>A
  hgvsp: ENSP00000162023.5:p.Ala51Thr
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.151G>A
  hgvsp: ENSP00000386784.2:p.Ala51Thr
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.151G>A
  hgvsp: ENSP00000473308.2:p.Ala51Thr
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.151G>A
  hgvsp: ENSP00000402154.2:p.Ala51Thr
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.310G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.536G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.202G>A
  hgvsp: ENSP00000454967.3:p.Ala68Thr
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.151G>A
  hgvsp: ENSP00000386374.1:p.Ala51Thr
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.151G>A
  hgvsp: ENSP00000386480.1:p.Ala51Thr
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*222G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*222G>A
  variant of: http://identifiers.org/hgnc/39979
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6978
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala51Thr
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

19-19260143-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260143
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260143
    reference: chr 19
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.150C>T
  hgvsp: ENST00000409447.2:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.150C>T
  hgvsp: ENST00000409224.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*221C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.201C>T
  hgvsp: ENST00000514819.3:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.309C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.150C>T
  hgvsp: ENST00000410050.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.150C>T
  hgvsp: ENST00000602424.2:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.150C>T
  hgvsp: ENST00000162023.5:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.150C>T
  hgvsp: ENST00000424583.2:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.150C>T
  hgvsp: ENST00000444486.3:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.535C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*221C>T
  variant of: http://identifiers.org/hgnc/39979
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser50Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

19-19260146-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260146
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260146
    reference: chr 19
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.147C>T
  hgvsp: ENST00000409224.1:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.147C>T
  hgvsp: ENST00000162023.5:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.147C>T
  hgvsp: ENST00000424583.2:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.147C>T
  hgvsp: ENST00000602424.2:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.147C>T
  hgvsp: ENST00000444486.3:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.147C>T
  hgvsp: ENST00000410050.1:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*218C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.532C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.198C>T
  hgvsp: ENST00000514819.3:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.306C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*218C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.147C>T
  hgvsp: ENST00000409447.2:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn49Asn
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

19-19260147-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260147
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260147
    reference: chr 19
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.146A>G
  hgvsp: ENSP00000386480.1:p.Asn49Ser
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.146A>G
  hgvsp: ENSP00000162023.5:p.Asn49Ser
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*217A>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.146A>G
  hgvsp: ENSP00000402154.2:p.Asn49Ser
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.197A>G
  hgvsp: ENSP00000454967.3:p.Asn66Ser
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.146A>G
  hgvsp: ENSP00000473308.2:p.Asn49Ser
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.146A>G
  hgvsp: ENSP00000386784.2:p.Asn49Ser
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.146A>G
  hgvsp: ENSP00000390762.2:p.Asn49Ser
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.531A>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.146A>G
  hgvsp: ENSP00000386374.1:p.Asn49Ser
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*217A>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.305A>G
  variant of: http://identifiers.org/hgnc/39979
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6985
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33390
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn49Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum

19-19260179-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260179
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260179
    reference: chr 19
allele count: 2
allele frequency: 1.648125257519571e-5
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.114C>T
  hgvsp: ENST00000444486.3:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.114C>T
  hgvsp: ENST00000409447.2:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.114C>T
  hgvsp: ENST00000162023.5:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.499C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*185C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.114C>T
  hgvsp: ENST00000409224.1:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.273C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.114C>T
  hgvsp: ENST00000410050.1:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.114C>T
  hgvsp: ENST00000424583.2:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*185C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.114C>T
  hgvsp: ENST00000602424.2:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.165C>T
  hgvsp: ENST00000514819.3:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/39979
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu38Leu
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

19-19260184-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260184
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260184
    reference: chr 19
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.109G>A
  hgvsp: ENSP00000162023.5:p.Val37Met
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.109G>A
  hgvsp: ENSP00000386374.1:p.Val37Met
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.109G>A
  hgvsp: ENSP00000402154.2:p.Val37Met
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.109G>A
  hgvsp: ENSP00000386784.2:p.Val37Met
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.268G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.109G>A
  hgvsp: ENSP00000473308.2:p.Val37Met
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.160G>A
  hgvsp: ENSP00000454967.3:p.Val54Met
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*180G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*180G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.109G>A
  hgvsp: ENSP00000390762.2:p.Val37Met
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.109G>A
  hgvsp: ENSP00000386480.1:p.Val37Met
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.494G>A
  variant of: http://identifiers.org/hgnc/39979
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16670
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33466
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val37Met
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD

19-19260185-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260185
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260185
    reference: chr 19
allele count: 16
allele frequency: 1.318348109818398e-4
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.108C>T
  hgvsp: ENST00000444486.3:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*179C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.108C>T
  hgvsp: ENST00000424583.2:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.108C>T
  hgvsp: ENST00000162023.5:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.108C>T
  hgvsp: ENST00000409447.2:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.267C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.108C>T
  hgvsp: ENST00000410050.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.108C>T
  hgvsp: ENST00000409224.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.159C>T
  hgvsp: ENST00000514819.3:c.159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.108C>T
  hgvsp: ENST00000602424.2:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.493C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*179C>T
  variant of: http://identifiers.org/hgnc/39979
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33458
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7006
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser36Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

19-19260191-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260191
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260191
    reference: chr 19
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*173G>C
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.102G>C
  hgvsp: ENSP00000386374.1:p.Glu34Asp
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.102G>C
  hgvsp: ENSP00000402154.2:p.Glu34Asp
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.102G>C
  hgvsp: ENSP00000473308.2:p.Glu34Asp
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.487G>C
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.102G>C
  hgvsp: ENSP00000386784.2:p.Glu34Asp
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*173G>C
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.102G>C
  hgvsp: ENSP00000162023.5:p.Glu34Asp
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.102G>C
  hgvsp: ENSP00000390762.2:p.Glu34Asp
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.261G>C
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.153G>C
  hgvsp: ENSP00000454967.3:p.Glu51Asp
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.102G>C
  hgvsp: ENSP00000386480.1:p.Glu34Asp
  variant of: http://identifiers.org/hgnc/6995
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu34Asp
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum

19-19260195-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260195
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260195
    reference: chr 19
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.98A>G
  hgvsp: ENSP00000390762.2:p.Tyr33Cys
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.483A>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.98A>G
  hgvsp: ENSP00000386480.1:p.Tyr33Cys
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.257A>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.149A>G
  hgvsp: ENSP00000454967.3:p.Tyr50Cys
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.98A>G
  hgvsp: ENSP00000162023.5:p.Tyr33Cys
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.98A>G
  hgvsp: ENSP00000402154.2:p.Tyr33Cys
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.98A>G
  hgvsp: ENSP00000386784.2:p.Tyr33Cys
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.98A>G
  hgvsp: ENSP00000473308.2:p.Tyr33Cys
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*169A>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.98A>G
  hgvsp: ENSP00000386374.1:p.Tyr33Cys
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*169A>G
  variant of: http://identifiers.org/hgnc/39979
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16676
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr33Cys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-19260209-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260209
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260209
    reference: chr 19
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*155G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.84G>A
  hgvsp: ENST00000409447.2:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.469G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.84G>A
  hgvsp: ENST00000602424.2:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.84G>A
  hgvsp: ENST00000424583.2:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.243G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.84G>A
  hgvsp: ENST00000162023.5:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.84G>A
  hgvsp: ENST00000409224.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.84G>A
  hgvsp: ENST00000444486.3:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.84G>A
  hgvsp: ENST00000410050.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.135G>A
  hgvsp: ENST00000514819.3:c.135G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*155G>A
  variant of: http://identifiers.org/hgnc/39979
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu28Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

19-19260211-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260211
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260211
    reference: chr 19
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*153C>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.82C>G
  hgvsp: ENSP00000473308.2:p.Leu28Val
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.467C>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.82C>G
  hgvsp: ENSP00000162023.5:p.Leu28Val
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.82C>G
  hgvsp: ENSP00000386374.1:p.Leu28Val
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.82C>G
  hgvsp: ENSP00000402154.2:p.Leu28Val
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.82C>G
  hgvsp: ENSP00000390762.2:p.Leu28Val
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*153C>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.82C>G
  hgvsp: ENSP00000386480.1:p.Leu28Val
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.82C>G
  hgvsp: ENSP00000386784.2:p.Leu28Val
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.133C>G
  hgvsp: ENSP00000454967.3:p.Leu45Val
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.241C>G
  variant of: http://identifiers.org/hgnc/39979
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu28Val
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/19-19260212-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260212
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260212
    reference: chr 19
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.240G>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.81G>T
  hgvsp: ENST00000409224.1:c.81G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.81G>T
  hgvsp: ENST00000410050.1:c.81G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.81G>T
  hgvsp: ENST00000409447.2:c.81G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.81G>T
  hgvsp: ENST00000602424.2:c.81G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.81G>T
  hgvsp: ENST00000162023.5:c.81G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.81G>T
  hgvsp: ENST00000424583.2:c.81G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.466G>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*152G>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.132G>T
  hgvsp: ENST00000514819.3:c.132G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*152G>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.81G>T
  hgvsp: ENST00000444486.3:c.81G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/39979
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33439
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly27Gly
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

19-19260214-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260214
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260214
    reference: chr 19
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*150G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.79G>A
  hgvsp: ENSP00000473308.2:p.Gly27Arg
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.79G>A
  hgvsp: ENSP00000402154.2:p.Gly27Arg
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*150G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.79G>A
  hgvsp: ENSP00000162023.5:p.Gly27Arg
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.79G>A
  hgvsp: ENSP00000386374.1:p.Gly27Arg
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.130G>A
  hgvsp: ENSP00000454967.3:p.Gly44Arg
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.238G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.79G>A
  hgvsp: ENSP00000386480.1:p.Gly27Arg
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.79G>A
  hgvsp: ENSP00000386784.2:p.Gly27Arg
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.464G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.79G>A
  hgvsp: ENSP00000390762.2:p.Gly27Arg
  variant of: http://identifiers.org/hgnc/39979
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16684
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly27Arg
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP

19-19260215-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260215
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260215
    reference: chr 19
allele count: 2
allele frequency: 1.647907980818351e-5
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.78C>T
  hgvsp: ENST00000409447.2:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.78C>T
  hgvsp: ENST00000424583.2:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*149C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.129C>T
  hgvsp: ENST00000514819.3:c.129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.463C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.78C>T
  hgvsp: ENST00000444486.3:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.78C>T
  hgvsp: ENST00000162023.5:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*149C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.78C>T
  hgvsp: ENST00000602424.2:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.237C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.78C>T
  hgvsp: ENST00000409224.1:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.78C>T
  hgvsp: ENST00000410050.1:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33435
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe26Phe
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-19260223-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260223
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260223
    reference: chr 19
allele count: 50
allele frequency: 4.120041530018623e-4
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.229C>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.70C>A
  hgvsp: ENST00000444486.3:c.70C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.70C>A
  hgvsp: ENST00000410050.1:c.70C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*141C>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.70C>A
  hgvsp: ENST00000602424.2:c.70C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.70C>A
  hgvsp: ENST00000409447.2:c.70C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.70C>A
  hgvsp: ENST00000162023.5:c.70C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.70C>A
  hgvsp: ENST00000409224.1:c.70C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.70C>A
  hgvsp: ENST00000424583.2:c.70C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.455C>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*141C>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.121C>A
  hgvsp: ENST00000514819.3:c.121C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/39979
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 33383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg24Arg
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

19-19260233-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260233
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260233
    reference: chr 19
allele count: 9
allele frequency: 7.416563658838072e-5
allele num: 121350
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.60G>C
  hgvsp: ENST00000602424.2:c.60G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.445G>C
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.60G>C
  hgvsp: ENST00000424583.2:c.60G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.111G>C
  hgvsp: ENST00000514819.3:c.111G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.60G>C
  hgvsp: ENST00000409447.2:c.60G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.60G>C
  hgvsp: ENST00000409224.1:c.60G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*131G>C
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.60G>C
  hgvsp: ENST00000410050.1:c.60G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.60G>C
  hgvsp: ENST00000444486.3:c.60G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.60G>C
  hgvsp: ENST00000162023.5:c.60G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*131G>C
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.219G>C
  variant of: http://identifiers.org/hgnc/39979
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr20Thr
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

19-19260233-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260233
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260233
    reference: chr 19
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.60G>A
  hgvsp: ENST00000410050.1:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.60G>A
  hgvsp: ENST00000409447.2:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.60G>A
  hgvsp: ENST00000602424.2:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.60G>A
  hgvsp: ENST00000409224.1:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.60G>A
  hgvsp: ENST00000162023.5:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.111G>A
  hgvsp: ENST00000514819.3:c.111G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.219G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*131G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*131G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.60G>A
  hgvsp: ENST00000444486.3:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.60G>A
  hgvsp: ENST00000424583.2:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.445G>A
  variant of: http://identifiers.org/hgnc/39979
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr20Thr
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

19-19260236-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260236
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260236
    reference: chr 19
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.57G>A
  hgvsp: ENST00000409447.2:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.108G>A
  hgvsp: ENST00000514819.3:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.442G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*128G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.57G>A
  hgvsp: ENST00000409224.1:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.216G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.57G>A
  hgvsp: ENST00000162023.5:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*128G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.57G>A
  hgvsp: ENST00000410050.1:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.57G>A
  hgvsp: ENST00000602424.2:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.57G>A
  hgvsp: ENST00000424583.2:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.57G>A
  hgvsp: ENST00000444486.3:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/39979
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.57G>A
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP

19-19260239-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260239
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260238
    reference: chr 19
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.55-2delA
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.55-2delA
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.214-2delA
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.440-2delA
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.55-2delA
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.55-2delA
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.106-2delA
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.55-2delA
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.55-2delA
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*126-2delA
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*126-2delA
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.55-2delA
  variant of: http://identifiers.org/hgnc/6995
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.55-2delA
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: CT
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

19-19260240-T-TGGACCCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260240
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260247
    reference: chr 19
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: TGGACCCA
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.55-9_55-3dupTGGGTCC
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.55-9_55-3dupTGGGTCC
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.106-9_106-3dupTGGGTCC
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.55-9_55-3dupTGGGTCC
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.440-9_440-3dupTGGGTCC
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.55-9_55-3dupTGGGTCC
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.214-9_214-3dupTGGGTCC
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*126-9_*126-3dupTGGGTCC
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.55-9_55-3dupTGGGTCC
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.55-9_55-3dupTGGGTCC
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*126-9_*126-3dupTGGGTCC
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.55-9_55-3dupTGGGTCC
  variant of: http://identifiers.org/hgnc/6995
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.55-9_55-3dupTGGGTCC
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD

19-19260250-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260250
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260250
    reference: chr 19
allele count: 10
allele frequency: 8.244566830458728e-5
allele num: 121292
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.55-12T>C
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.440-12T>C
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.55-12T>C
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.55-12T>C
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.214-12T>C
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.55-12T>C
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.55-12T>C
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.55-12T>C
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*126-12T>C
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*126-12T>C
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.106-12T>C
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.55-12T>C
  variant of: http://identifiers.org/hgnc/6995
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6986
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

19-19260256-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260256
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260255
    reference: chr 19
allele count: 3
allele frequency: 2.474471700291988e-5
allele num: 121238
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*126-19delC
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*126-19delC
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.55-19delC
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.55-19delC
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.55-19delC
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.440-19delC
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.214-19delC
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.55-19delC
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.55-19delC
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.55-19delC
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.55-19delC
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.106-19delC
  variant of: http://identifiers.org/hgnc/39979
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: AG
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/19-19260261-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260261
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260261
    reference: chr 19
allele count: 1
allele frequency: 8.25082508250825e-6
allele num: 121200
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.55-23G>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.55-23G>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.55-23G>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.214-23G>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*126-23G>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.55-23G>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.440-23G>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.55-23G>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.55-23G>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.55-23G>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*126-23G>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.106-23G>T
  variant of: http://identifiers.org/hgnc/39979
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6906
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32828
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

19-19260268-GAGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260268
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260265
    reference: chr 19
allele count: 7
allele frequency: 5.778056591937135e-5
allele num: 121148
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.55-33_55-31delTCT
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.55-33_55-31delTCT
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.55-33_55-31delTCT
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.214-33_214-31delTCT
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.106-33_106-31delTCT
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*126-33_*126-31delTCT
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.440-33_440-31delTCT
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.55-33_55-31delTCT
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.55-33_55-31delTCT
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.55-33_55-31delTCT
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*126-33_*126-31delTCT
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.55-33_55-31delTCT
  variant of: http://identifiers.org/hgnc/6995
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 32375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16046
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: GAGA
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-19260273-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260273
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260273
    reference: chr 19
allele count: 1
allele frequency: 8.254639107178234e-6
allele num: 121144
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.440-35C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.106-35C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.214-35C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.55-35C>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.55-35C>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*126-35C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.55-35C>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.55-35C>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*126-35C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.55-35C>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.55-35C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.55-35C>T
  variant of: http://identifiers.org/hgnc/6995
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

19-19260290-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19260290
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19260290
    reference: chr 19
allele count: 2
allele frequency: 1.656314699792961e-5
allele num: 120750
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.55-52C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.440-52C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.55-52C>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*126-52C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.55-52C>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.55-52C>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.214-52C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.55-52C>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.55-52C>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*126-52C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.106-52C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.55-52C>T
  variant of: http://identifiers.org/hgnc/6995
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14984
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6445
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

19-19261441-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19261441
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19261441
    reference: chr 19
allele count: 1
allele frequency: 8.282122210995345e-6
allele num: 120742
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.54+50G>A
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.54+50G>A
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*125+50G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.213+50G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.439+50G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*125+50G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.54+50G>A
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.54+50G>A
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.54+50G>A
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.54+50G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.105+50G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.54+50G>A
  variant of: http://identifiers.org/hgnc/6995
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4813
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6864
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14660
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

19-19261460-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19261460
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19261460
    reference: chr 19
allele count: 12
allele frequency: 1.003780908087128e-4
allele num: 119548
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.105+31A>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.213+31A>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.54+31A>G
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*125+31A>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.54+31A>G
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.54+31A>G
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.54+31A>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.54+31A>G
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.54+31A>G
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.54+31A>G
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*125+31A>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.439+31A>G
  variant of: http://identifiers.org/hgnc/39979
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 4761
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8186
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/19-19261478-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19261478
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19261478
    reference: chr 19
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*125+13G>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.54+13G>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.54+13G>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.54+13G>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.54+13G>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.54+13G>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.213+13G>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.105+13G>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.54+13G>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*125+13G>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.54+13G>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.439+13G>T
  variant of: http://identifiers.org/hgnc/39979
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4610
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

19-19261482-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19261482
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19261482
    reference: chr 19
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.54+9A>G
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.54+9A>G
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.54+9A>G
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*125+9A>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.54+9A>G
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.439+9A>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.213+9A>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.54+9A>G
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.54+9A>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.54+9A>G
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*125+9A>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.105+9A>G
  variant of: http://identifiers.org/hgnc/39979
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8651
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

19-19261487-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19261487
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19261487
    reference: chr 19
allele count: 2
allele frequency: 1.64866870002473e-5
allele num: 121310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.54+4A>G
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.54+4A>G
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.54+4A>G
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.213+4A>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*125+4A>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.54+4A>G
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.439+4A>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.54+4A>G
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*125+4A>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.54+4A>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.105+4A>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.54+4A>G
  variant of: http://identifiers.org/hgnc/6995
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 8644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.54+4A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum

http://identifiers.org/exac.variant/19-19261489-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19261489
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19261489
    reference: chr 19
allele count: 279
allele frequency: 2.334532675089951e-3
allele num: 119510
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.54+2T>G
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.54+2T>G
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.54+2T>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.105+2T>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.54+2T>G
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*125+2T>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.54+2T>G
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*125+2T>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.213+2T>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.54+2T>G
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.439+2T>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.54+2T>G
  variant of: http://identifiers.org/hgnc/6995
canonical: true
consequence: splice donor
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 8573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4484
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 14743
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 9.75e1
  variant carriers: 228
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
hgvs: c.54+2T>G
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/19-19261490-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19261490
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19261490
    reference: chr 19
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.105+1G>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.54+1G>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.54+1G>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.54+1G>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.213+1G>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*125+1G>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.439+1G>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.54+1G>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.54+1G>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*125+1G>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.54+1G>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.54+1G>T
  variant of: http://identifiers.org/hgnc/39979
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.54+1G>T
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-19261495-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19261495
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19261495
    reference: chr 19
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.50G>A
  hgvsp: ENSP00000402154.2:p.Arg17Gln
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.50G>A
  hgvsp: ENSP00000390762.2:p.Arg17Gln
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.209G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.50G>A
  hgvsp: ENSP00000473308.2:p.Arg17Gln
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.50G>A
  hgvsp: ENSP00000162023.5:p.Arg17Gln
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.50G>A
  hgvsp: ENSP00000386784.2:p.Arg17Gln
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.435G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473369
  ensembl transcript: ENST00000602689
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602689.1:c.*189G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.50G>A
  hgvsp: ENSP00000386480.1:p.Arg17Gln
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.50G>A
  hgvsp: ENSP00000386374.1:p.Arg17Gln
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*121G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.101G>A
  hgvsp: ENSP00000454967.3:p.Arg34Gln
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*121G>A
  variant of: http://identifiers.org/hgnc/39979
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg17Gln
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-19261496-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19261496
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19261496
    reference: chr 19
allele count: 2
allele frequency: 1.647853670594051e-5
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.100C>T
  hgvsp: ENSP00000454967.3:p.Arg34Trp
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.208C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.49C>T
  hgvsp: ENSP00000162023.5:p.Arg17Trp
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.49C>T
  hgvsp: ENSP00000386480.1:p.Arg17Trp
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.49C>T
  hgvsp: ENSP00000402154.2:p.Arg17Trp
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.49C>T
  hgvsp: ENSP00000390762.2:p.Arg17Trp
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.434C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473369
  ensembl transcript: ENST00000602689
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602689.1:c.*188C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.49C>T
  hgvsp: ENSP00000386374.1:p.Arg17Trp
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.49C>T
  hgvsp: ENSP00000473308.2:p.Arg17Trp
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.49C>T
  hgvsp: ENSP00000386784.2:p.Arg17Trp
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*120C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*120C>T
  variant of: http://identifiers.org/hgnc/39979
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg17Trp
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

19-19261516-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19261516
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19261516
    reference: chr 19
allele count: 8
allele frequency: 6.590328692643546e-5
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*100G>C
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.29G>C
  hgvsp: ENSP00000390762.2:p.Arg10Pro
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.29G>C
  hgvsp: ENSP00000386374.1:p.Arg10Pro
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.29G>C
  hgvsp: ENSP00000473308.2:p.Arg10Pro
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*100G>C
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473369
  ensembl transcript: ENST00000602689
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602689.1:c.*168G>C
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.29G>C
  hgvsp: ENSP00000386480.1:p.Arg10Pro
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.29G>C
  hgvsp: ENSP00000402154.2:p.Arg10Pro
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.80G>C
  hgvsp: ENSP00000454967.3:p.Arg27Pro
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.29G>C
  hgvsp: ENSP00000162023.5:p.Arg10Pro
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.29G>C
  hgvsp: ENSP00000386784.2:p.Arg10Pro
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.188G>C
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.414G>C
  variant of: http://identifiers.org/hgnc/39979
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg10Pro
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-19261536-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19261536
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19261536
    reference: chr 19
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.9G>A
  hgvsp: ENST00000444486.3:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.9G>A
  hgvsp: ENST00000409224.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.9G>A
  hgvsp: ENST00000409447.2:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.9G>A
  hgvsp: ENST00000410050.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*80G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*80G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.9G>A
  hgvsp: ENST00000602424.2:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.9G>A
  hgvsp: ENST00000424583.2:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473369
  ensembl transcript: ENST00000602689
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602689.1:c.*148G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.9G>A
  hgvsp: ENST00000162023.5:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.394G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.60G>A
  hgvsp: ENST00000514819.3:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.168G>A
  variant of: http://identifiers.org/hgnc/39979
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg3Arg
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

19-19261545-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19261545
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19261545
    reference: chr 19
allele count: 8
allele frequency: 6.59152330103487e-5
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.-1G>A
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.51G>A
  hgvsp: ENST00000514819.3:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.-1G>A
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.385G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.-1G>A
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.-1G>A
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473369
  ensembl transcript: ENST00000602689
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602689.1:c.*139G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.-1G>A
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.-1G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.-1G>A
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.159G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*71G>A
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*71G>A
  variant of: http://identifiers.org/hgnc/39979
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4571
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr17Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

19-19261546-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19261546
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19261546
    reference: chr 19
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*70C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.-2C>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.-2C>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.384C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.50C>T
  hgvsp: ENSP00000454967.3:p.Thr17Met
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.-2C>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.-2C>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.-2C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.-2C>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.-2C>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*70C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473369
  ensembl transcript: ENST00000602689
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602689.1:c.*138C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.158C>T
  variant of: http://identifiers.org/hgnc/39979
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15345
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr17Met
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/19-19261548-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19261548
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19261548
    reference: chr 19
allele count: 5
allele frequency: 4.119837843182493e-5
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.156G>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.-4G>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.48G>T
  hgvsp: ENST00000514819.3:c.48G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473369
  ensembl transcript: ENST00000602689
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602689.1:c.*136G>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*68G>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.-4G>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.-4G>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.-4G>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.-4G>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.382G>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.-4G>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*68G>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.-4G>T
  variant of: http://identifiers.org/hgnc/6995
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8679
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly16Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

19-19261549-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19261549
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19261549
    reference: chr 19
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*67G>C
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.-5G>C
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.-5G>C
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.-5G>C
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*67G>C
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.-5G>C
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.-5G>C
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.381G>C
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.47G>C
  hgvsp: ENSP00000454967.3:p.Gly16Ala
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.-5G>C
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473369
  ensembl transcript: ENST00000602689
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602689.1:c.*135G>C
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.155G>C
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.-5G>C
  variant of: http://identifiers.org/hgnc/6995
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly16Ala
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

19-19261551-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19261551
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19261551
    reference: chr 19
allele count: 2
allele frequency: 1.648098094798602e-5
allele num: 121352
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.379T>C
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*65T>C
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.45T>C
  hgvsp: ENST00000514819.3:c.45T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.-7T>C
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.-7T>C
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.153T>C
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.-7T>C
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.-7T>C
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.-7T>C
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.-7T>C
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.-7T>C
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*65T>C
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473369
  ensembl transcript: ENST00000602689
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602689.1:c.*133T>C
  variant of: http://identifiers.org/hgnc/39979
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro15Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

19-19261553-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19261553
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19261553
    reference: chr 19
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.-9C>G
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*63C>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473369
  ensembl transcript: ENST00000602689
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602689.1:c.*131C>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.-9C>G
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.43C>G
  hgvsp: ENSP00000454967.3:p.Pro15Ala
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.151C>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.-9C>G
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.-9C>G
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.-9C>G
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.377C>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.-9C>G
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*63C>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.-9C>G
  variant of: http://identifiers.org/hgnc/39979
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15346
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4569
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro15Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

19-19261556-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19261556
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19261556
    reference: chr 19
allele count: 12
allele frequency: 9.889892529834509e-5
allele num: 121336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.-12C>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*60C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.148C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.-12C>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.-12C>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.40C>T
  hgvsp: ENSP00000454967.3:p.Gln14Ter
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.374C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.-12C>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.-12C>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*60C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.-12C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.-12C>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473369
  ensembl transcript: ENST00000602689
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602689.1:c.*128C>T
  variant of: http://identifiers.org/hgnc/39979
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gln14Ter
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

19-19261561-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19261561
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19261561
    reference: chr 19
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473369
  ensembl transcript: ENST00000602689
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602689.1:c.*123C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*55C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.-17C>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.-17C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.369C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*55C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.143C>T
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.35C>T
  hgvsp: ENSP00000454967.3:p.Ser12Phe
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.-17C>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.-17C>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.-17C>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.-17C>T
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.-17C>T
  variant of: http://identifiers.org/hgnc/6995
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8617
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4562
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser12Phe
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum

19-19261566-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19261566
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19261566
    reference: chr 19
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*50T>C
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.-22T>C
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.364T>C
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.-22T>C
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.-22T>C
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.-22T>C
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.30T>C
  hgvsp: ENST00000514819.3:c.30T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*50T>C
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.-22T>C
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.-22T>C
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.138T>C
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.-22T>C
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473369
  ensembl transcript: ENST00000602689
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602689.1:c.*118T>C
  variant of: http://identifiers.org/hgnc/39979
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp10Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

19-19261571-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19261571
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19261571
    reference: chr 19
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.-27A>G
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.-27A>G
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.133A>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*45A>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.-27A>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.25A>G
  hgvsp: ENSP00000454967.3:p.Lys9Glu
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.-27A>G
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.-27A>G
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*45A>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473369
  ensembl transcript: ENST00000602689
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602689.1:c.*113A>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.359A>G
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.-27A>G
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.-27A>G
  variant of: http://identifiers.org/hgnc/6995
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24566
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4555
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15314
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys9Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

19-19261575-TAGG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19261575
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19261572
    reference: chr 19
allele count: 1
allele frequency: 8.251642076773278e-6
allele num: 121188
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473369
  ensembl transcript: ENST00000602689
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602689.1:c.*111-5_*111-3delCCT
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000473577
  ensembl transcript: ENST00000602804
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602804.1:c.*43-5_*43-3delCCT
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602438
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602438.1:n.357-5_357-3delCCT
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386374
  ensembl transcript: ENST00000410050
  gene symbol: MEF2B
  hgvsc: ENST00000410050.1:c.-29-5_-29-3delCCT
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000390762
  ensembl transcript: ENST00000444486
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000444486.3:c.-29-5_-29-3delCCT
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000402154
  ensembl transcript: ENST00000424583
  gene symbol: MEF2B
  hgvsc: ENST00000424583.2:c.-29-5_-29-3delCCT
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl transcript: ENST00000602276
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000602276.1:n.131-5_131-3delCCT
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000162023
  ensembl transcript: ENST00000162023
  gene symbol: MEF2B
  hgvsc: ENST00000162023.5:c.-29-5_-29-3delCCT
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000473308
  ensembl transcript: ENST00000602424
  gene symbol: MEF2B
  hgvsc: ENST00000602424.2:c.-29-5_-29-3delCCT
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386480
  ensembl transcript: ENST00000409224
  gene symbol: MEF2B
  hgvsc: ENST00000409224.1:c.-29-5_-29-3delCCT
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213999
  ensembl protein: ENSP00000386784
  ensembl transcript: ENST00000409447
  gene symbol: MEF2B
  hgvsc: ENST00000409447.2:c.-29-5_-29-3delCCT
  variant of: http://identifiers.org/hgnc/6995
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000454967
  ensembl transcript: ENST00000514819
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000514819.3:c.23-5_23-3delCCT
  variant of: http://identifiers.org/hgnc/39979
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064489
  ensembl protein: ENSP00000457957
  ensembl transcript: ENST00000354191
  gene symbol: MEF2BNB-MEF2B
  hgvsc: ENST00000354191.4:c.*43-5_*43-3delCCT
  variant of: http://identifiers.org/hgnc/39979
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 24513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-29-5_-29-3delCCT
num of homozygotes: 0
reference allele: TAGG

GenotypeQuality
all individuals: 1602
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3122
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2350
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1190
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 953
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2207
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35753
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 493
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2622
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15992
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.183712121212121e-4
allele num: 8448
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9846
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64080
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10846
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.451352e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.826e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.610000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.13e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.29e-1

QD
type: SiteQuality
SIO_000300: 1.218e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.351e0

GenotypeDepth
all individuals: 184
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2904
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1860
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 241
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2229
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 37545
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7340
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2602
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1769
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.922603691208574e-5
allele num: 10078
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6066
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16196
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65204
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11168
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.454e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.557e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.84e-1

FS
type: SiteQuality
SIO_000300: 6.39e0

VQSLOD
type: SiteQuality
SIO_000300: 7.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.71e-1

DP
type: SiteQuality
SIO_000300: 1.499566e6

GenotypeDepth
all individuals: 88
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1801
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 643
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1660
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2650
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7456
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2241
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 37910
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2965
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16252
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10120
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.645961403186837e-5
allele num: 65394
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.914244963451596e-5
allele num: 11218
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6110
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 9.869999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -2.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.506615e6

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

GenotypeDepth
all individuals: 6433
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 109
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 688
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2878
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3221
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7993
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38883
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1951
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2272
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510802235987309e-5
allele num: 66190
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16414
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: 8634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

DP
type: SiteQuality
SIO_000300: 1.543232e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.96e0

QD
type: SiteQuality
SIO_000300: 1.132e1

VQSLOD
type: SiteQuality
SIO_000300: 8.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

FS
type: SiteQuality
SIO_000300: 6.831e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 88
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1955
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3231
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39000
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2887
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8009
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2275
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 182
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510072181450273e-5
allele num: 66222
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6378
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.591e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQ
type: SiteQuality
SIO_000300: 5.801e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

DP
type: SiteQuality
SIO_000300: 1.544755e6

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.766e0

QD
type: SiteQuality
SIO_000300: 5.9e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.246e0

GenotypeDepth
all individuals: 52
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8058
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3255
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2275
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 143
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2895
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 3.25e1
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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: 8.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

Other
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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
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.508341126429153e-5
allele num: 66298
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.549726e6

ReadPosRankSum
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QD
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ClippingRankSum
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VQSLOD
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FS
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQRankSum
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SIO_000300: 1.02e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66344
num of homozygotes: 0

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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num of homozygotes: 0

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

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

Latino
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allele count: 3
allele frequency: 2.613240418118467e-4
allele num: 11480
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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQ
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SIO_000300: 5.962e1

VQSLOD
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SIO_000300: 9.95e-1

BaseQRankSum
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ClippingRankSum
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QD
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DP
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MQRankSum
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SIO_000300: 4.72e-1

FS
type: SiteQuality
SIO_000300: 2.356e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.64e-1

GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

Other
type: Population
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: 6464
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.703220191470844e-5
allele num: 11490
num of homozygotes: 0

African
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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
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66388
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.71e0

InbreedingCoeff
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MQ
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SIO_000300: 5.951e1

FS
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -8.79e-1

VQSLOD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.06e-1

DP
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SIO_000300: 1.553815e6

GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2941
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504890895410083e-5
allele num: 66450
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.556939e6

MQRankSum
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SIO_000300: -1.7e-2

QD
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SIO_000300: 9.25e0

ClippingRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 5.89e1

VQSLOD
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SIO_000300: -1.433e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-2

FS
type: SiteQuality
SIO_000300: 8.5e0

BaseQRankSum
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SIO_000300: -6.47e-1

GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2322
bin: 9.75e1
variant carriers: 45

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.009057262359703e-5
allele num: 66466
num of homozygotes: 0

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

African
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allele count: 43
allele frequency: 4.144977829188355e-3
allele num: 10374
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.03e0

InbreedingCoeff
type: SiteQuality
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DP
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FS
type: SiteQuality
SIO_000300: 5.42e-1

ClippingRankSum
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SIO_000300: -4.3e-1

MQRankSum
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SIO_000300: 1.75e-1

BaseQRankSum
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SIO_000300: 1.03e0

ReadPosRankSum
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SIO_000300: 5.11e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

QD
type: SiteQuality
SIO_000300: 1.503e1

GenotypeDepth
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variant carriers: 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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GenotypeQuality
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GenotypeQuality
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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

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: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002462018855461e-5
allele num: 66612
num of homozygotes: 0

South Asian
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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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East Asian
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allele frequency: 0.0e0
allele num: 8648
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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

Latino
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

ClippingRankSum
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DP
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VQSLOD
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FS
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BaseQRankSum
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QD
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ReadPosRankSum
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SIO_000300: 1.27e0

InbreedingCoeff
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SIO_000300: 3.0e-4

MQ
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SIO_000300: 5.965e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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num of homozygotes: 0

Other
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: 2
allele frequency: 3.001380635092142e-5
allele num: 66636
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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European (Finnish)
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South Asian
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QD
type: SiteQuality
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DP
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FS
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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VQSLOD
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GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 7.790858725761773e-4
allele num: 11552
num of homozygotes: 0

East Asian
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South Asian
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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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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500645277469312e-5
allele num: 66638
num of homozygotes: 0

Other
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DP
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VQSLOD
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FS
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BaseQRankSum
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QD
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MQ
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 6604
num of homozygotes: 0

Latino
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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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European (Non-Finnish)
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allele frequency: 1.5004651441947e-5
allele num: 66646
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Other
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East Asian
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South Asian
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FS
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SIO_000300: 8.49e-1

MQRankSum
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InbreedingCoeff
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MQ
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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European (Non-Finnish)
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East Asian
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European (Finnish)
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Latino
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allele frequency: 5.192107995846313e-4
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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QD
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FS
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DP
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

European (Finnish)
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allele count: 0
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East Asian
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African
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Other
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Latino
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South Asian
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allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: 2.26e0

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

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

East Asian
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Other
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African
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European (Finnish)
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European (Non-Finnish)
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allele num: 66614
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Latino
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InbreedingCoeff
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MQRankSum
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VQSLOD
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FS
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ClippingRankSum
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MQ
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DP
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QD
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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European (Non-Finnish)
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East Asian
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Other
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Latino
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European (Finnish)
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VQSLOD
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InbreedingCoeff
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FS
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DP
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MQ
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QD
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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East Asian
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South Asian
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Latino
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African
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European (Non-Finnish)
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ClippingRankSum
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FS
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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MQ
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BaseQRankSum
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VQSLOD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7.75e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

East Asian
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allele frequency: 1.15606936416185e-4
allele num: 8650
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: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.000840235265874e-5
allele num: 66648
num of homozygotes: 0

Other
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ClippingRankSum
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MQRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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QD
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DP
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VQSLOD
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ReadPosRankSum
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SIO_000300: 8.04e-1

MQ
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SIO_000300: 5.967e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500330072615976e-5
allele num: 66652
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 906
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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num of homozygotes: 0

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

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

ReadPosRankSum
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SIO_000300: 2.63e0

InbreedingCoeff
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SIO_000300: 1.3e-3

FS
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ClippingRankSum
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MQ
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VQSLOD
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DP
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MQRankSum
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QD
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SIO_000300: 1.16e1

BaseQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3.75e1
variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
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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
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.5001500150015e-5
allele num: 66660
num of homozygotes: 0

East Asian
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South Asian
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MQRankSum
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SIO_000300: 9.95e-1

MQ
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BaseQRankSum
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SIO_000300: -3.506e0

ClippingRankSum
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DP
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InbreedingCoeff
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FS
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QD
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ReadPosRankSum
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SIO_000300: 7.14e-1

VQSLOD
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SIO_000300: 8.78e-1

GenotypeDepth
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bin: 9.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4.25e1
variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
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
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num of homozygotes: 0

East Asian
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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: 66654
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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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

ClippingRankSum
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SIO_000300: 1.23e-1

MQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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QD
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FS
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DP
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SIO_000300: 1.570902e6

BaseQRankSum
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SIO_000300: 5.51e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
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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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Latino
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allele frequency: 1.728309713100588e-4
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num of homozygotes: 0

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

African
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East Asian
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VQSLOD
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FS
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DP
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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East Asian
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European (Finnish)
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European (Non-Finnish)
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South Asian
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Other
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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MQ
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ClippingRankSum
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ReadPosRankSum
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FS
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MQRankSum
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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East Asian
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Other
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African
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European (Finnish)
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MQ
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InbreedingCoeff
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MQRankSum
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DP
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QD
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FS
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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European (Non-Finnish)
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African
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European (Finnish)
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Other
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MQ
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BaseQRankSum
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DP
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FS
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InbreedingCoeff
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QD
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VQSLOD
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ClippingRankSum
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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African
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Other
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European (Non-Finnish)
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FS
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BaseQRankSum
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DP
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VQSLOD
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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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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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Latino
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African
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South Asian
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BaseQRankSum
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MQRankSum
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QD
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ClippingRankSum
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FS
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VQSLOD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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East Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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Other
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InbreedingCoeff
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DP
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VQSLOD
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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QD
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FS
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BaseQRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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European (Non-Finnish)
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Latino
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European (Finnish)
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MQ
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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South Asian
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European (Non-Finnish)
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East Asian
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QD
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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FS
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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European (Non-Finnish)
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South Asian
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African
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MQ
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QD
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FS
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DP
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 50

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Other
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allele count: 2
allele frequency: 2.207505518763797e-3
allele num: 906
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

European (Finnish)
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allele count: 40
allele frequency: 6.047777441790143e-3
allele num: 6614
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
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allele count: 8
allele frequency: 1.199364336901442e-4
allele num: 66702
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

BaseQRankSum
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SIO_000300: -9.31e-1

InbreedingCoeff
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SIO_000300: 1.9e-3

ReadPosRankSum
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SIO_000300: 7.97e-1

DP
type: SiteQuality
SIO_000300: 1.575595e6

MQ
type: SiteQuality
SIO_000300: 5.957e1

FS
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SIO_000300: 3.543e0

ClippingRankSum
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SIO_000300: -4.42e-1

VQSLOD
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SIO_000300: 1.17e0

QD
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SIO_000300: 1.268e1

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7.25e1
variant carriers: 0

Latino
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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: 906
num of homozygotes: 0

South Asian
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allele count: 9
allele frequency: 5.450581395348837e-4
allele num: 16512
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: 3.73e0

ReadPosRankSum
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SIO_000300: 9.67e-1

QD
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VQSLOD
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MQRankSum
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FS
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SIO_000300: 2.296e0

InbreedingCoeff
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SIO_000300: 3.1e-3

ClippingRankSum
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SIO_000300: -9.379999999999999e-1

DP
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SIO_000300: 1.573453e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 720
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

African
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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
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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

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

East Asian
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allele frequency: 0.0e0
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FS
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SIO_000300: 2.296e0

InbreedingCoeff
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SIO_000300: 3.1e-3

BaseQRankSum
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QD
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MQRankSum
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SIO_000300: -2.96e-1

ReadPosRankSum
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SIO_000300: 9.67e-1

ClippingRankSum
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SIO_000300: -9.379999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.573453e6

VQSLOD
type: SiteQuality
SIO_000300: 7.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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bin: 3.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10398
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
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: 906
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499520153550864e-5
allele num: 66688
num of homozygotes: 0

ReadPosRankSum
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SIO_000300: -1.2e0

BaseQRankSum
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SIO_000300: -6.319e0

ClippingRankSum
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VQSLOD
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FS
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MQ
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SIO_000300: 5.848e1

InbreedingCoeff
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SIO_000300: 4.4e-3

MQRankSum
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QD
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SIO_000300: 1.112e1

DP
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SIO_000300: 1.572813e6

GenotypeDepth
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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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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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ClippingRankSum
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MQ
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VQSLOD
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FS
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DP
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MQRankSum
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BaseQRankSum
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QD
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ReadPosRankSum
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InbreedingCoeff
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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num of homozygotes: 0

Other
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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
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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MQ
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BaseQRankSum
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FS
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InbreedingCoeff
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QD
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DP
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VQSLOD
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GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 10
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allele num: 66672
num of homozygotes: 0

South Asian
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Other
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European (Finnish)
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East Asian
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Latino
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African
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MQ
type: SiteQuality
SIO_000300: 5.955e1

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

Other
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South Asian
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11568
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 3.470615455807496e-4
allele num: 8644
num of homozygotes: 0

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

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

European (Non-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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African
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allele frequency: 0.0e0
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Latino
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South Asian
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allele frequency: 6.074596039363382e-5
allele num: 16462
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

MQ
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QD
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DP
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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FS
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VQSLOD
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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European (Non-Finnish)
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East Asian
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African
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Latino
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European (Finnish)
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QD
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ClippingRankSum
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MQ
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MQRankSum
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VQSLOD
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DP
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InbreedingCoeff
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FS
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 11560
num of homozygotes: 0

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

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

Latino
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allele frequency: 1.734304543877905e-4
allele num: 11532
num of homozygotes: 0

East Asian
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num of homozygotes: 0

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

European (Non-Finnish)
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num of homozygotes: 0

Other
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QD
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MQRankSum
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VQSLOD
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DP
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MQ
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ReadPosRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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African
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East Asian
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South Asian
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Latino
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Other
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DP
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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QD
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MQRankSum
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VQSLOD
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FS
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InbreedingCoeff
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MQ
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3

South Asian
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Other
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European (Non-Finnish)
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Latino
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African
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European (Finnish)
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East Asian
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ClippingRankSum
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MQ
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BaseQRankSum
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MQRankSum
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VQSLOD
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DP
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FS
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

QD
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SIO_000300: 1.252e1

FS
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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SIO_000300: -1.68e0

ClippingRankSum
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SIO_000300: -1.331e0

ReadPosRankSum
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DP
type: SiteQuality
SIO_000300: 2.076456e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

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

South Asian
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allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.5001500150015e-5
allele num: 66660
num of homozygotes: 0

African
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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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num of homozygotes: 0

Other
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num of homozygotes: 0

MQ
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SIO_000300: 5.88e1

ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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QD
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FS
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ClippingRankSum
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DP
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BaseQRankSum
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SIO_000300: 2.42e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2030
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

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

African
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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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: 1
allele frequency: 1.513775355737209e-4
allele num: 6606
num of homozygotes: 0

ReadPosRankSum
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FS
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SIO_000300: 9.8146e1

VQSLOD
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BaseQRankSum
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MQ
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SIO_000300: 5.909e1

DP
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SIO_000300: 2.078496e6

ClippingRankSum
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SIO_000300: 2.16e0

QD
type: SiteQuality
SIO_000300: 3.4e-1

InbreedingCoeff
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SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -6.94e-1

GenotypeDepth
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variant carriers: 7

GenotypeQuality
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GenotypeQuality
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variant carriers: 10

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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variant carriers: 13

GenotypeQuality
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variant carriers: 14

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 12

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 8

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 104

GenotypeQuality
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variant carriers: 22

GenotypeQuality
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variant carriers: 16

GenotypeQuality
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variant carriers: 7

GenotypeQuality
all individuals: 2704
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variant carriers: 10

GenotypeQuality
all individuals: 32772
bin: 6.25e1
variant carriers: 12

Latino
type: Population
allele count: 6
allele frequency: 5.210142410559222e-4
allele num: 11516
num of homozygotes: 0

African
type: Population
allele count: 49
allele frequency: 4.85629335976214e-3
allele num: 10090
num of homozygotes: 0

Other
type: Population
allele count: 9
allele frequency: 1.013513513513514e-2
allele num: 888
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 31
allele frequency: 4.941026458399745e-3
allele num: 6274
num of homozygotes: 0

East Asian
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allele count: 11
allele frequency: 1.279367294719702e-3
allele num: 8598
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 173
allele frequency: 2.635106318162432e-3
allele num: 65652
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.868e1

QD
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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MQRankSum
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FS
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SIO_000300: 3.62567e2

DP
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SIO_000300: 2.13878e6

ClippingRankSum
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SIO_000300: 5.98e0

InbreedingCoeff
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SIO_000300: -7.2e-3

GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66692
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
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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VQSLOD
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QD
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MQRankSum
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FS
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InbreedingCoeff
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DP
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MQ
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7.75e1
variant carriers: 0

East Asian
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allele count: 0
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allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
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allele num: 66698
num of homozygotes: 0

Latino
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Finnish)
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Other
type: Population
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FS
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MQ
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ReadPosRankSum
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BaseQRankSum
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DP
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VQSLOD
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QD
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 66706
num of homozygotes: 0

European (Finnish)
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South Asian
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allele num: 16504
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Latino
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African
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East Asian
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MQ
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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QD
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FS
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ClippingRankSum
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DP
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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East Asian
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European (Non-Finnish)
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FS
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QD
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DP
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MQRankSum
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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South Asian
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European (Non-Finnish)
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BaseQRankSum
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QD
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MQRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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East Asian
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African
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InbreedingCoeff
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QD
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MQ
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MQRankSum
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ReadPosRankSum
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FS
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VQSLOD
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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European (Non-Finnish)
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Latino
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East Asian
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South Asian
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VQSLOD
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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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QD
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MQ
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InbreedingCoeff
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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South Asian
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VQSLOD
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BaseQRankSum
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FS
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QD
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MQRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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Latino
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European (Non-Finnish)
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European (Finnish)
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MQRankSum
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FS
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MQ
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ReadPosRankSum
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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European (Non-Finnish)
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African
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VQSLOD
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ClippingRankSum
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MQRankSum
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QD
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BaseQRankSum
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FS
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DP
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SIO_000300: 2.024401e6

MQ
type: SiteQuality
SIO_000300: 5.979e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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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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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33958
bin: 6.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

European (Finnish)
type: Population
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: 8652
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-2

MQ
type: SiteQuality
SIO_000300: 5.79e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
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SIO_000300: 2.02419e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: 0.0e0

VQSLOD
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SIO_000300: -2.113e0

MQRankSum
type: SiteQuality
SIO_000300: -2.58e-1

QD
type: SiteQuality
SIO_000300: 5.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.99e-1

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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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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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 12

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 7.278903311901007e-4
allele num: 16486
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.024403e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.049e0

VQSLOD
type: SiteQuality
SIO_000300: 7.88e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.639999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.134e0

QD
type: SiteQuality
SIO_000300: 1.303e1

GenotypeDepth
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bin: 9.75e1
variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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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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variant carriers: 0

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
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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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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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
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: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
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: 11562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -7.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.896e1

DP
type: SiteQuality
SIO_000300: 2.023241e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

QD
type: SiteQuality
SIO_000300: 1.34e1

FS
type: SiteQuality
SIO_000300: 1.069e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.425e0

MQRankSum
type: SiteQuality
SIO_000300: -2.01e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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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GenotypeQuality
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variant carriers: 1

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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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
all individuals: 20
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.763e1

FS
type: SiteQuality
SIO_000300: 2.627e0

MQRankSum
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InbreedingCoeff
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BaseQRankSum
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SIO_000300: 3.2e0

VQSLOD
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SIO_000300: -2.322e0

ReadPosRankSum
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SIO_000300: 1.19e0

ClippingRankSum
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SIO_000300: -1.209e0

DP
type: SiteQuality
SIO_000300: 2.021649e6

QD
type: SiteQuality
SIO_000300: 9.66e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 4.75e1
variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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: 4.25e1
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
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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500105007350515e-5
allele num: 66662
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
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: 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: 8648
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.020422e6

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.629e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.15e-1

BaseQRankSum
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SIO_000300: -2.58e-1

VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.925e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-2

QD
type: SiteQuality
SIO_000300: 1.069e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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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: 3.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0