11-64892940-AGT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64892940
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64892938
    reference: chr 11
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.230-17_230-16delGT
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.230-17_230-16delGT
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+819_229+820delGT
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.51-17_51-16delGT
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.747_748delGT
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.310-17_310-16delGT
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.230-17_230-16delGT
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3025_259-3024delAC
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.111-17_111-16delGT
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.79-17_79-16delGT
  variant of: http://identifiers.org/hgnc/1176
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4885
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3202
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: AGT
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

11-64892943-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64892943
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64892943
    reference: chr 11
allele count: 2
allele frequency: 1.647962294622699e-5
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.310-17G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+819G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.230-17G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.747G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3026C>T
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.230-17G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.111-17G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.230-17G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.51-17G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.79-17G>A
  variant of: http://identifiers.org/hgnc/1176
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4886
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

11-64892949-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64892949
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64892949
    reference: chr 11
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.310-11C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.230-11C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.51-11C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.230-11C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.230-11C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.753C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3032G>A
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.111-11C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.79-11C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+825C>T
  variant of: http://identifiers.org/hgnc/1176
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17388
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ

11-64892961-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64892961
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64892961
    reference: chr 11
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.52C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+837C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.231C>T
  hgvsp: ENST00000526171.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.311C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.231C>T
  hgvsp: ENST00000526319.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3044G>A
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.765C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.231C>T
  hgvsp: ENST00000279242.2:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.80C>T
  hgvsp: ENSP00000434222.1:p.Thr27Ile
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.112C>T
  hgvsp: ENST00000533943.1:c.112C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr27Ile
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

11-64892965-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64892965
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64892965
    reference: chr 11
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.235C>T
  hgvsp: ENSP00000434190.1:p.Pro79Ser
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.769C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.235C>T
  hgvsp: ENSP00000437177.1:p.Pro79Ser
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.56C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3048G>A
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.235C>T
  hgvsp: ENSP00000279242.2:p.Pro79Ser
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.315C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.116C>T
  hgvsp: ENSP00000434052.1:p.Pro40Ser
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.84C>T
  hgvsp: ENST00000534078.1:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+841C>T
  variant of: http://identifiers.org/hgnc/1176
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17887
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro79Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
reference allele: C
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

11-64892982-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64892982
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64892982
    reference: chr 11
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.73C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.332C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.133C>T
  hgvsp: ENST00000533943.1:c.133C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.101C>T
  hgvsp: ENSP00000434222.1:p.Thr34Ile
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.786C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.252C>T
  hgvsp: ENST00000279242.2:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.252C>T
  hgvsp: ENST00000526171.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.252C>T
  hgvsp: ENST00000526319.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3065G>A
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+858C>T
  variant of: http://identifiers.org/hgnc/1176
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17896
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr34Ile
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

11-64892988-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64892988
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64892988
    reference: chr 11
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3071T>C
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.258A>G
  hgvsp: ENST00000526171.1:c.258A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+864A>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.258A>G
  hgvsp: ENST00000279242.2:c.258A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.258A>G
  hgvsp: ENST00000526319.1:c.258A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.79A>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.107A>G
  hgvsp: ENSP00000434222.1:p.Tyr36Cys
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.792A>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.139A>G
  hgvsp: ENST00000533943.1:c.139A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.338A>G
  variant of: http://identifiers.org/hgnc/1176
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4251
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Tyr36Cys
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum

11-64892989-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64892989
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64892989
    reference: chr 11
allele count: 2
allele frequency: 1.647717910693689e-5
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.259C>T
  hgvsp: ENSP00000434190.1:p.Arg87Ter
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+865C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.339C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.793C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.108C>T
  hgvsp: ENST00000534078.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.140C>T
  hgvsp: ENSP00000434052.1:p.Arg48Ter
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.80C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.259C>T
  hgvsp: ENSP00000279242.2:p.Arg87Ter
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3072G>A
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.259C>T
  hgvsp: ENSP00000437177.1:p.Arg87Ter
  variant of: http://identifiers.org/hgnc/1176
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3203
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg87Ter
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP

11-64892990-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64892990
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64892990
    reference: chr 11
allele count: 4
allele frequency: 3.295327225993541e-5
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.109G>A
  hgvsp: ENSP00000434222.1:p.Asp37Asn
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.141G>A
  hgvsp: ENSP00000434052.1:p.Arg48Gln
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.260G>A
  hgvsp: ENSP00000437177.1:p.Arg87Gln
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3073C>T
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.81G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.794G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.260G>A
  hgvsp: ENSP00000434190.1:p.Arg87Gln
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+866G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.340G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.260G>A
  hgvsp: ENSP00000279242.2:p.Arg87Gln
  variant of: http://identifiers.org/hgnc/1176
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7319
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg87Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

11-64892992-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64892992
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64892992
    reference: chr 11
allele count: 4
allele frequency: 3.295327225993541e-5
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+868C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.262C>T
  hgvsp: ENSP00000279242.2:p.Arg88Cys
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3075G>A
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.111C>T
  hgvsp: ENST00000534078.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.342C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.83C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.796C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.262C>T
  hgvsp: ENSP00000434190.1:p.Arg88Cys
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.262C>T
  hgvsp: ENSP00000437177.1:p.Arg88Cys
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.143C>T
  hgvsp: ENSP00000434052.1:p.Arg49Cys
  variant of: http://identifiers.org/hgnc/1176
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17380
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Arg88Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

11-64892993-GCT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64892993
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64892991
    reference: chr 11
allele count: 2
allele frequency: 1.64766361299677e-5
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.267_268delTC
  hgvsp: ENSP00000279242.2:p.Arg90AspfsTer52
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.267_268delTC
  hgvsp: ENSP00000437177.1:p.Arg90AspfsTer60
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.88_89delTC
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.801_802delTC
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.347_348delTC
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.116_117delTC
  hgvsp: ENSP00000434222.1:p.Leu39ArgfsTer78
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.267_268delTC
  hgvsp: ENSP00000434190.1:p.Arg90AspfsTer52
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3078_259-3077delAG
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.148_149delTC
  hgvsp: ENSP00000434052.1:p.Arg51AspfsTer52
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+873_229+874delTC
  variant of: http://identifiers.org/hgnc/1176
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13264
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg90AspfsTer52
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: GCT
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

11-64892994-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64892994
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64892994
    reference: chr 11
allele count: 2
allele frequency: 1.647717910693689e-5
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.264C>T
  hgvsp: ENST00000526319.1:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.798C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.264C>T
  hgvsp: ENST00000279242.2:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.113C>T
  hgvsp: ENSP00000434222.1:p.Ala38Val
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.85C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.145C>T
  hgvsp: ENST00000533943.1:c.145C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+870C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.264C>T
  hgvsp: ENST00000526171.1:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.344C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3077G>A
  variant of: http://identifiers.org/hgnc/20738
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4251
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala38Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

11-64892998-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64892998
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64892998
    reference: chr 11
allele count: 3
allele frequency: 2.471536142096851e-5
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+874C>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.268C>G
  hgvsp: ENSP00000437177.1:p.Arg90Gly
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3081G>C
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.802C>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.268C>G
  hgvsp: ENSP00000279242.2:p.Arg90Gly
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.89C>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.348C>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.268C>G
  hgvsp: ENSP00000434190.1:p.Arg90Gly
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.149C>G
  hgvsp: ENSP00000434052.1:p.Arg51Gly
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.117C>G
  hgvsp: ENST00000534078.1:c.117C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17375
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg90Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD

11-64892998-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64892998
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64892998
    reference: chr 11
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.117C>T
  hgvsp: ENST00000534078.1:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3081G>A
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.149C>T
  hgvsp: ENSP00000434052.1:p.Arg51Trp
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+874C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.268C>T
  hgvsp: ENSP00000279242.2:p.Arg90Trp
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.802C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.268C>T
  hgvsp: ENSP00000437177.1:p.Arg90Trp
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.89C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.268C>T
  hgvsp: ENSP00000434190.1:p.Arg90Trp
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.348C>T
  variant of: http://identifiers.org/hgnc/1176
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2126
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg90Trp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

11-64892999-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64892999
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64892999
    reference: chr 11
allele count: 2
allele frequency: 1.647717910693689e-5
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.269G>A
  hgvsp: ENSP00000434190.1:p.Arg90Gln
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.118G>A
  hgvsp: ENSP00000434222.1:p.Gly40Arg
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.269G>A
  hgvsp: ENSP00000279242.2:p.Arg90Gln
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.90G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+875G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3082C>T
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.269G>A
  hgvsp: ENSP00000437177.1:p.Arg90Gln
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.150G>A
  hgvsp: ENSP00000434052.1:p.Arg51Gln
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.349G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.803G>A
  variant of: http://identifiers.org/hgnc/1176
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13264
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg90Gln
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

11-64893000-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893000
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893000
    reference: chr 11
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.119G>C
  hgvsp: ENSP00000434222.1:p.Gly40Ala
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.270G>C
  hgvsp: ENST00000279242.2:c.270G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.91G>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3083C>G
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+876G>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.270G>C
  hgvsp: ENST00000526319.1:c.270G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.270G>C
  hgvsp: ENST00000526171.1:c.270G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.804G>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.350G>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.151G>C
  hgvsp: ENST00000533943.1:c.151G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly40Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/11-64893005-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893005
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893005
    reference: chr 11
allele count: 3
allele frequency: 2.471495419495156e-5
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.275A>C
  hgvsp: ENSP00000279242.2:p.His92Pro
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+881A>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.96A>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.275A>C
  hgvsp: ENSP00000437177.1:p.His92Pro
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.275A>C
  hgvsp: ENSP00000434190.1:p.His92Pro
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.124A>C
  hgvsp: ENSP00000434222.1:p.Thr42Pro
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.156A>C
  hgvsp: ENSP00000434052.1:p.His53Pro
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.809A>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3088T>G
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.355A>C
  variant of: http://identifiers.org/hgnc/1176
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13264
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4886
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
hgvs: p.His92Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-64893013-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893013
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893013
    reference: chr 11
allele count: 2
allele frequency: 1.64766361299677e-5
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.283C>G
  hgvsp: ENSP00000279242.2:p.Pro95Ala
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.132C>G
  hgvsp: ENST00000534078.1:c.132C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.104C>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3096G>C
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.164C>G
  hgvsp: ENSP00000434052.1:p.Pro56Ala
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.817C>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.283C>G
  hgvsp: ENSP00000437177.1:p.Pro95Ala
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.283C>G
  hgvsp: ENSP00000434190.1:p.Pro95Ala
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.363C>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+889C>G
  variant of: http://identifiers.org/hgnc/1176
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4886
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4248
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro95Ala
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: C
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

11-64893015-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893015
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893015
    reference: chr 11
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.285C>T
  hgvsp: ENST00000526171.1:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.134C>T
  hgvsp: ENSP00000434222.1:p.Pro45Leu
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.285C>T
  hgvsp: ENST00000279242.2:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.166C>T
  hgvsp: ENST00000533943.1:c.166C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.365C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.819C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.106C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.285C>T
  hgvsp: ENST00000526319.1:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+891C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3098G>A
  variant of: http://identifiers.org/hgnc/20738
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6940
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4952
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17886
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro45Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

11-64893016-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893016
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893016
    reference: chr 11
allele count: 2
allele frequency: 1.647690761397901e-5
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.820G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.107G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.286G>A
  hgvsp: ENSP00000437177.1:p.Val96Ile
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.286G>A
  hgvsp: ENSP00000279242.2:p.Val96Ile
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.366G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+892G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.167G>A
  hgvsp: ENSP00000434052.1:p.Val57Ile
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.286G>A
  hgvsp: ENSP00000434190.1:p.Val96Ile
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.135G>A
  hgvsp: ENST00000534078.1:c.135G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3099C>T
  variant of: http://identifiers.org/hgnc/20738
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4886
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val96Ile
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum

11-64893016-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893016
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893016
    reference: chr 11
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+892G>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.820G>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.107G>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.286G>T
  hgvsp: ENSP00000279242.2:p.Val96Phe
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.167G>T
  hgvsp: ENSP00000434052.1:p.Val57Phe
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.366G>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3099C>A
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.286G>T
  hgvsp: ENSP00000437177.1:p.Val96Phe
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.135G>T
  hgvsp: ENST00000534078.1:c.135G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.286G>T
  hgvsp: ENSP00000434190.1:p.Val96Phe
  variant of: http://identifiers.org/hgnc/1176
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4886
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17367
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val96Phe
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-64893018-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893018
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893018
    reference: chr 11
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3101G>C
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.368C>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.288C>G
  hgvsp: ENST00000526171.1:c.288C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.109C>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.288C>G
  hgvsp: ENST00000279242.2:c.288C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+894C>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.288C>G
  hgvsp: ENST00000526319.1:c.288C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.169C>G
  hgvsp: ENST00000533943.1:c.169C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.137C>G
  hgvsp: ENSP00000434222.1:p.Ser46Cys
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.822C>G
  variant of: http://identifiers.org/hgnc/1176
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4886
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17365
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser46Cys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

11-64893020-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893020
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893020
    reference: chr 11
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.139A>G
  hgvsp: ENSP00000434222.1:p.Thr47Ala
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.370A>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.290A>G
  hgvsp: ENSP00000279242.2:p.Tyr97Cys
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+896A>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.824A>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.290A>G
  hgvsp: ENSP00000437177.1:p.Tyr97Cys
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.290A>G
  hgvsp: ENSP00000434190.1:p.Tyr97Cys
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.111A>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.171A>G
  hgvsp: ENSP00000434052.1:p.Tyr58Cys
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3103T>C
  variant of: http://identifiers.org/hgnc/20738
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4886
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4249
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Tyr97Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

11-64893022-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893022
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893022
    reference: chr 11
allele count: 3
allele frequency: 2.47161759132627e-5
allele num: 121378
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.826A>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.292A>G
  hgvsp: ENSP00000434190.1:p.Lys98Glu
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.372A>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+898A>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.113A>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.141A>G
  hgvsp: ENST00000534078.1:c.141A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.292A>G
  hgvsp: ENSP00000279242.2:p.Lys98Glu
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.173A>G
  hgvsp: ENSP00000434052.1:p.Lys59Glu
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.292A>G
  hgvsp: ENSP00000437177.1:p.Lys98Glu
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3105T>C
  variant of: http://identifiers.org/hgnc/20738
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4886
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6942
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2129
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys98Glu
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

11-64893024-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893024
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893024
    reference: chr 11
allele count: 355
allele frequency: 2.924795676245716e-3
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.294G>A
  hgvsp: ENST00000526171.1:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.115G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.143G>A
  hgvsp: ENSP00000434222.1:p.Arg48Lys
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.175G>A
  hgvsp: ENST00000533943.1:c.175G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3107C>T
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+900G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.374G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.828G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.294G>A
  hgvsp: ENST00000526319.1:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.294G>A
  hgvsp: ENST00000279242.2:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 6.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 13976
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9015
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13260
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 9.75e1
  variant carriers: 190
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4867
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 6.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg48Lys
num of homozygotes: 1
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/11-64893027-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893027
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893026
    reference: chr 11
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.298delA
  hgvsp: ENSP00000279242.2:p.Ile100SerfsTer8
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.298delA
  hgvsp: ENSP00000437177.1:p.Ile100SerfsTer8
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.832delA
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+904delA
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.298delA
  hgvsp: ENSP00000434190.1:p.Ile100SerfsTer8
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.378delA
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.179delA
  hgvsp: ENSP00000434052.1:p.Ile61SerfsTer8
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.147delA
  hgvsp: ENSP00000434222.1:p.Ser50HisfsTer42
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3111delT
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.119delA
  variant of: http://identifiers.org/hgnc/1176
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4891
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9061
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17126
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7379
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile100SerfsTer8
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
reference allele: CA
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

11-64893028-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893028
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893028
    reference: chr 11
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.119A>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3111T>C
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.298A>G
  hgvsp: ENSP00000437177.1:p.Ile100Val
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.832A>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.378A>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+904A>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.298A>G
  hgvsp: ENSP00000434190.1:p.Ile100Val
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.179A>G
  hgvsp: ENSP00000434052.1:p.Ile61Val
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.298A>G
  hgvsp: ENSP00000279242.2:p.Ile100Val
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.147A>G
  hgvsp: ENST00000534078.1:c.147A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2136
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile100Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

11-64893031-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893031
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893031
    reference: chr 11
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.301A>G
  hgvsp: ENSP00000437177.1:p.Thr101Ala
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.122A>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.835A>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.301A>G
  hgvsp: ENSP00000434190.1:p.Thr101Ala
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.150A>G
  hgvsp: ENST00000534078.1:c.150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.301A>G
  hgvsp: ENSP00000279242.2:p.Thr101Ala
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.182A>G
  hgvsp: ENSP00000434052.1:p.Thr62Ala
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+907A>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.381A>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3114T>C
  variant of: http://identifiers.org/hgnc/20738
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6960
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3532
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr101Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/11-64893032-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893032
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893032
    reference: chr 11
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.382C>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3115G>T
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.836C>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.302C>A
  hgvsp: ENSP00000437177.1:p.Thr101Lys
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.151C>A
  hgvsp: ENSP00000434222.1:p.Arg51Ser
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.302C>A
  hgvsp: ENSP00000279242.2:p.Thr101Lys
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+908C>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.302C>A
  hgvsp: ENSP00000434190.1:p.Thr101Lys
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.123C>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.183C>A
  hgvsp: ENSP00000434052.1:p.Thr62Lys
  variant of: http://identifiers.org/hgnc/1176
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6960
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7369
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr101Lys
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

11-64893032-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893032
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893032
    reference: chr 11
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.836C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.123C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.382C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.151C>T
  hgvsp: ENSP00000434222.1:p.Arg51Cys
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.302C>T
  hgvsp: ENSP00000434190.1:p.Thr101Met
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.183C>T
  hgvsp: ENSP00000434052.1:p.Thr62Met
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.302C>T
  hgvsp: ENSP00000279242.2:p.Thr101Met
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3115G>A
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.302C>T
  hgvsp: ENSP00000437177.1:p.Thr101Met
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+908C>T
  variant of: http://identifiers.org/hgnc/1176
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6960
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr101Met
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

11-64893033-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893033
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893033
    reference: chr 11
allele count: 2
allele frequency: 1.647989452867502e-5
allele num: 121360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.184G>T
  hgvsp: ENST00000533943.1:c.184G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.383G>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.124G>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+909G>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3116C>A
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.152G>T
  hgvsp: ENSP00000434222.1:p.Arg51Leu
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.303G>T
  hgvsp: ENST00000526171.1:c.303G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.303G>T
  hgvsp: ENST00000526319.1:c.303G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.303G>T
  hgvsp: ENST00000279242.2:c.303G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.837G>T
  variant of: http://identifiers.org/hgnc/1176
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9063
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13336
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3531
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg51Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

11-64893033-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893033
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893033
    reference: chr 11
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.152G>A
  hgvsp: ENSP00000434222.1:p.Arg51His
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+909G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.303G>A
  hgvsp: ENST00000279242.2:c.303G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.303G>A
  hgvsp: ENST00000526319.1:c.303G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.303G>A
  hgvsp: ENST00000526171.1:c.303G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.383G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.184G>A
  hgvsp: ENST00000533943.1:c.184G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3116C>T
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.837G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.124G>A
  variant of: http://identifiers.org/hgnc/1176
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9063
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3213
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg51His
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/11-64893035-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893035
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893035
    reference: chr 11
allele count: 2
allele frequency: 1.647989452867502e-5
allele num: 121360
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.839A>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3118T>G
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.126A>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.186A>C
  hgvsp: ENSP00000434052.1:p.His63Pro
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.305A>C
  hgvsp: ENSP00000434190.1:p.His102Pro
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+911A>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.305A>C
  hgvsp: ENSP00000279242.2:p.His102Pro
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.154A>C
  hgvsp: ENSP00000434222.1:p.Met52Leu
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.305A>C
  hgvsp: ENSP00000437177.1:p.His102Pro
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.385A>C
  variant of: http://identifiers.org/hgnc/1176
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6960
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.His102Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

11-64893035-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893035
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893035
    reference: chr 11
allele count: 2
allele frequency: 1.647989452867502e-5
allele num: 121360
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.385A>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.154A>G
  hgvsp: ENSP00000434222.1:p.Met52Val
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.305A>G
  hgvsp: ENSP00000434190.1:p.His102Arg
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.305A>G
  hgvsp: ENSP00000279242.2:p.His102Arg
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.305A>G
  hgvsp: ENSP00000437177.1:p.His102Arg
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.126A>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3118T>C
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.186A>G
  hgvsp: ENSP00000434052.1:p.His63Arg
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+911A>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.839A>G
  variant of: http://identifiers.org/hgnc/1176
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6960
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4256
  bin: 8.25e1
  variant carriers: 0
hgvs: p.His102Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

11-64893039-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893039
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893039
    reference: chr 11
allele count: 19
allele frequency: 1.565744800079111e-4
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.843C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.190C>T
  hgvsp: ENST00000533943.1:c.190C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.309C>T
  hgvsp: ENST00000526319.1:c.309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.389C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.158C>T
  hgvsp: ENSP00000434222.1:p.Ala53Val
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.309C>T
  hgvsp: ENST00000526171.1:c.309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3122G>A
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+915C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.130C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.309C>T
  hgvsp: ENST00000279242.2:c.309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9067
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6958
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala53Val
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/11-64893043-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893043
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893043
    reference: chr 11
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.847C>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+919C>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.194C>A
  hgvsp: ENST00000533943.1:c.194C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.393C>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.313C>A
  hgvsp: ENST00000526319.1:c.313C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.313C>A
  hgvsp: ENST00000526171.1:c.313C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3126G>T
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.162C>A
  hgvsp: ENST00000534078.1:c.162C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.313C>A
  hgvsp: ENST00000279242.2:c.313C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.134C>A
  variant of: http://identifiers.org/hgnc/1176
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4891
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6960
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14021
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2137
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg105Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

11-64893044-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893044
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893044
    reference: chr 11
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.195G>A
  hgvsp: ENSP00000434052.1:p.Arg66Gln
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.394G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.163G>A
  hgvsp: ENSP00000434222.1:p.Gly55Ser
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.848G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.135G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+920G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.314G>A
  hgvsp: ENSP00000437177.1:p.Arg105Gln
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.314G>A
  hgvsp: ENSP00000279242.2:p.Arg105Gln
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3127C>T
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.314G>A
  hgvsp: ENSP00000434190.1:p.Arg105Gln
  variant of: http://identifiers.org/hgnc/1176
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4892
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2138
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg105Gln
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/11-64893046-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893046
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893046
    reference: chr 11
allele count: 39
allele frequency: 3.214268053472234e-4
allele num: 121334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.316C>A
  hgvsp: ENSP00000434190.1:p.Gln106Lys
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.197C>A
  hgvsp: ENSP00000434052.1:p.Gln67Lys
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3129G>T
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.165C>A
  hgvsp: ENST00000534078.1:c.165C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.316C>A
  hgvsp: ENSP00000279242.2:p.Gln106Lys
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.396C>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.850C>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.316C>A
  hgvsp: ENSP00000437177.1:p.Gln106Lys
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.137C>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+922C>A
  variant of: http://identifiers.org/hgnc/1176
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9067
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6956
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4253
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln106Lys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD

11-64893053-CTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893053
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893051
    reference: chr 11
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.326_327delTG
  hgvsp: ENSP00000279242.2:p.Val109AspfsTer33
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.*4_*5delTG
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.326_327delTG
  hgvsp: ENSP00000434190.1:p.Val109AspfsTer33
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.860_861delTG
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.326_327delTG
  hgvsp: ENSP00000437177.1:p.Val109AspfsTer41
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.147_148delTG
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.406_407delTG
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+932_229+933delTG
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.207_208delTG
  hgvsp: ENSP00000434052.1:p.Val70AspfsTer33
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3138_259-3137delCA
  variant of: http://identifiers.org/hgnc/20738
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9067
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4892
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17891
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val109AspfsTer33
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: CTG
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD

11-64893055-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893055
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893055
    reference: chr 11
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.325G>A
  hgvsp: ENSP00000437177.1:p.Val109Met
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.*3G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.859G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.206G>A
  hgvsp: ENSP00000434052.1:p.Val70Met
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+931G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.325G>A
  hgvsp: ENSP00000279242.2:p.Val109Met
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.146G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.325G>A
  hgvsp: ENSP00000434190.1:p.Val109Met
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.405G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3138C>T
  variant of: http://identifiers.org/hgnc/20738
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4891
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6960
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3532
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17069
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val109Met
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

11-64893062-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893062
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893062
    reference: chr 11
allele count: 6
allele frequency: 4.947066389630949e-5
allele num: 121284
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.866G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+938G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.153G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.412G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.*10G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.332G>A
  hgvsp: ENSP00000279242.2:p.Arg111Gln
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.332G>A
  hgvsp: ENSP00000434190.1:p.Arg111Gln
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.332G>A
  hgvsp: ENSP00000437177.1:p.Arg111Gln
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.213G>A
  hgvsp: ENSP00000434052.1:p.Arg72Gln
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3145C>T
  variant of: http://identifiers.org/hgnc/20738
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13307
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6961
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9061
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17815
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17065
  bin: 9.75e1
  variant carriers: 6
hgvs: p.Arg111Gln
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

11-64893065-AAGTGGAAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893065
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893057
    reference: chr 11
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.336_343delAGTGGAAG
  hgvsp: ENSP00000437177.1:p.Val113GlyfsTer35
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.336_343delAGTGGAAG
  hgvsp: ENSP00000434190.1:p.Val113GlyfsTer27
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.217_224delAGTGGAAG
  hgvsp: ENSP00000434052.1:p.Val74GlyfsTer27
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.416_423delAGTGGAAG
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.*14_*21delAGTGGAAG
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.870_877delAGTGGAAG
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.336_343delAGTGGAAG
  hgvsp: ENSP00000279242.2:p.Val113GlyfsTer27
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.157_164delAGTGGAAG
  variant of: http://identifiers.org/hgnc/1176
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17826
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val113GlyfsTer27
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: AAGTGGAAG
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

11-64893076-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893076
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893076
    reference: chr 11
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.346G>C
  hgvsp: ENSP00000434190.1:p.Asp116His
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.426G>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.880G>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+952G>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.227G>C
  hgvsp: ENSP00000434052.1:p.Asp77His
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.167G>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.*24G>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.346G>C
  hgvsp: ENSP00000279242.2:p.Asp116His
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3159C>G
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.346G>C
  hgvsp: ENSP00000437177.1:p.Asp116His
  variant of: http://identifiers.org/hgnc/1176
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4886
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9041
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6954
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp116His
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

11-64893088-AGTGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893088
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893084
    reference: chr 11
allele count: 1
allele frequency: 8.254230293025175e-6
allele num: 121150
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.434+15_434+18delGGGT
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.175+15_175+18delGGGT
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.*32+15_*32+18delGGGT
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.235+15_235+18delGGGT
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.369_372delGGGT
  hgvsp: ENSP00000437177.1:p.Gly124TrpfsTer5
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.888+15_888+18delGGGT
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.354+15_354+18delGGGT
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+975_229+978delGGGT
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.354+15_354+18delGGGT
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3175_259-3172delCCAC
  variant of: http://identifiers.org/hgnc/20738
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4880
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9013
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly124TrpfsTer5
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: AGTGG
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

11-64893094-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893094
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893094
    reference: chr 11
allele count: 3
allele frequency: 2.477987213585978e-5
allele num: 121066
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.*32+10T>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.364T>G
  hgvsp: ENSP00000437177.1:p.Trp122Gly
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+970T>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.175+10T>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.434+10T>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.235+10T>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3177A>C
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.354+10T>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.888+10T>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.354+10T>G
  variant of: http://identifiers.org/hgnc/1176
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13153
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8984
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4920
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Trp122Gly
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

11-64893095-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893095
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893095
    reference: chr 11
allele count: 1
allele frequency: 8.260230295220631e-6
allele num: 121062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.175+11G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.434+11G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.365G>A
  hgvsp: ENSP00000437177.1:p.Trp122Ter
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.*32+11G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.888+11G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.354+11G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.354+11G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+971G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3178C>T
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.235+11G>A
  variant of: http://identifiers.org/hgnc/1176
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6926
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4878
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17406
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Trp122Ter
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

11-64893097-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893097
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893097
    reference: chr 11
allele count: 1
allele frequency: 8.259411599517651e-6
allele num: 121074
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.434+13G>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.888+13G>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3180C>G
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.367G>C
  hgvsp: ENSP00000437177.1:p.Val123Leu
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.235+13G>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.354+13G>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.354+13G>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.175+13G>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.*32+13G>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+973G>C
  variant of: http://identifiers.org/hgnc/1176
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8979
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13818
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7195
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2126
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val123Leu
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

11-64893099-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893099
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893099
    reference: chr 11
allele count: 1
allele frequency: 8.259820927082301e-6
allele num: 121068
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.235+15G>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.*32+15G>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.888+15G>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.434+15G>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3182C>A
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.175+15G>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+975G>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.354+15G>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.369G>T
  hgvsp: ENST00000526171.1:c.369G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.354+15G>T
  variant of: http://identifiers.org/hgnc/1176
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13823
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6924
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val123Val
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

11-64893111-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893111
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893111
    reference: chr 11
allele count: 6
allele frequency: 4.955728822518832e-5
allele num: 121072
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.381G>A
  hgvsp: ENST00000526171.1:c.381G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.434+27G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.*32+27G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.354+27G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3194C>T
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.354+27G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.175+27G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.888+27G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+987G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.235+27G>A
  variant of: http://identifiers.org/hgnc/1176
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8960
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13049
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6905
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3512
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu127Leu
num of homozygotes: 1
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD

11-64893125-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893125
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893125
    reference: chr 11
allele count: 4
allele frequency: 3.304419661296985e-5
allele num: 121050
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.*32+41C>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.888+41C>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.434+41C>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.235+41C>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.354+41C>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.395C>G
  hgvsp: ENSP00000437177.1:p.Ser132Ter
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.175+41C>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.354+41C>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3208G>C
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+1001C>G
  variant of: http://identifiers.org/hgnc/1176
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12938
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6878
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4867
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8935
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser132Ter
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

11-64893127-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893127
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893127
    reference: chr 11
allele count: 5
allele frequency: 4.129774018765693e-5
allele num: 121072
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.354+43G>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.888+43G>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.434+43G>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.235+43G>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.175+43G>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.*32+43G>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.354+43G>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.397G>C
  hgvsp: ENSP00000437177.1:p.Gly133Arg
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+1003G>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3210C>G
  variant of: http://identifiers.org/hgnc/20738
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6871
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7071
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly133Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

11-64893139-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893139
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893139
    reference: chr 11
allele count: 1
allele frequency: 8.256274768824306e-6
allele num: 121120
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+1015C>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.888+55C>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.434+55C>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.354+55C>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.175+55C>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.354+55C>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3222G>C
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.409C>G
  hgvsp: ENSP00000437177.1:p.Gln137Glu
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.*32+55C>G
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.235+55C>G
  variant of: http://identifiers.org/hgnc/1176
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12743
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6856
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4857
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln137Glu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

11-64893146-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893146
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893146
    reference: chr 11
allele count: 1
allele frequency: 8.255047961828658e-6
allele num: 121138
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.355-52C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.*33-52C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.889-52C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+1022C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.435-52C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.236-52C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3229G>A
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.176-52C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.416C>T
  hgvsp: ENSP00000437177.1:p.Ser139Phe
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.355-52C>T
  variant of: http://identifiers.org/hgnc/1176
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6851
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8883
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17661
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3498
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser139Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

11-64893164-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893164
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893164
    reference: chr 11
allele count: 1
allele frequency: 8.248102936324645e-6
allele num: 121240
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.355-34T>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.*11T>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.435-34T>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.889-34T>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.355-34T>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+1040T>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.176-34T>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.*33-34T>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.236-34T>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3247A>G
  variant of: http://identifiers.org/hgnc/20738
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4857
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8860
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6846
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3042
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD

11-64893182-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893182
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893182
    reference: chr 11
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.355-16T>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3265A>T
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.889-16T>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.355-16T>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.*29T>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.*33-16T>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.176-16T>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+1058T>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.435-16T>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.236-16T>A
  variant of: http://identifiers.org/hgnc/1176
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6846
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

11-64893185-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893185
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893185
    reference: chr 11
allele count: 1
allele frequency: 8.248647221855616e-6
allele num: 121232
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.*32C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3268G>A
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.236-13C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+1061C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.889-13C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.355-13C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.355-13C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.176-13C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.435-13C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.*33-13C>T
  variant of: http://identifiers.org/hgnc/1176
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13415
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17013
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6859
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

11-64893189-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893189
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893189
    reference: chr 11
allele count: 1
allele frequency: 8.247558722618106e-6
allele num: 121248
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.889-9T>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.*33-9T>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.355-9T>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.176-9T>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.236-9T>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.*36T>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.435-9T>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.355-9T>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3272A>G
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+1065T>C
  variant of: http://identifiers.org/hgnc/1176
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4857
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13442
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6845
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8857
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4771
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
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: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD

11-64893191-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893191
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893191
    reference: chr 11
allele count: 1
allele frequency: 8.247014580721778e-6
allele num: 121256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.176-7T>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.236-7T>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.*38T>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.889-7T>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.435-7T>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.355-7T>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.*33-7T>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.355-7T>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+1067T>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3274A>T
  variant of: http://identifiers.org/hgnc/20738
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6846
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4858
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
hgvs: c.355-7T>A
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

11-64893192-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893192
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893192
    reference: chr 11
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.*33-6C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.889-6C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.176-6C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+1068C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.435-6C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.236-6C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.355-6C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3275G>A
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.*39C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.355-6C>T
  variant of: http://identifiers.org/hgnc/1176
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6848
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4651
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4858
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
hgvs: c.355-6C>T
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

11-64893193-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893193
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893193
    reference: chr 11
allele count: 2
allele frequency: 1.649430121892886e-5
allele num: 121254
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.355-5C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.889-5C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.*33-5C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.*40C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.236-5C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3276G>A
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.176-5C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.355-5C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+1069C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.435-5C>T
  variant of: http://identifiers.org/hgnc/1176
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6845
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6857
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.25e1
  variant carriers: 0
hgvs: c.355-5C>T
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum

11-64893202-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893202
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893202
    reference: chr 11
allele count: 1
allele frequency: 8.246878556466378e-6
allele num: 121258
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000437177
  ensembl transcript: ENST00000526171
  gene symbol: MRPL49
  hgvsc: ENST00000526171.1:c.*49T>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.893T>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.359T>C
  hgvsp: ENSP00000279242.2:p.Leu120Pro
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.439T>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.*37T>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.359T>C
  hgvsp: ENSP00000434190.1:p.Leu120Pro
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3285A>G
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.240T>C
  hgvsp: ENSP00000434052.1:p.Leu81Pro
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.180T>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+1078T>C
  variant of: http://identifiers.org/hgnc/1176
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6846
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8846
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12556
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4858
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17013
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu120Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

11-64893212-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893212
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893212
    reference: chr 11
allele count: 3
allele frequency: 2.474267616785431e-5
allele num: 121248
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.449C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.*47C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.190C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.369C>T
  hgvsp: ENST00000526319.1:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.250C>T
  hgvsp: ENST00000533943.1:c.250C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3295G>A
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.369C>T
  hgvsp: ENST00000279242.2:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.903C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+1088C>T
  variant of: http://identifiers.org/hgnc/1176
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4857
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2098
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3491
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6848
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp123Asp
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

11-64893213-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893213
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893213
    reference: chr 11
allele count: 297
allele frequency: 2.449565346485657e-3
allele num: 121246
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.370G>A
  hgvsp: ENSP00000279242.2:p.Val124Met
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+1089G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.*48G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.191G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.904G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.251G>A
  hgvsp: ENSP00000434052.1:p.Val85Met
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.450G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3296C>T
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.370G>A
  hgvsp: ENSP00000434190.1:p.Val124Met
  variant of: http://identifiers.org/hgnc/1176
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4847
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 9.75e1
  variant carriers: 226
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4731
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13644
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12552
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8829
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6825
  bin: 4.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6852
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val124Met
num of homozygotes: 6
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

11-64893230-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893230
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893230
    reference: chr 11
allele count: 207
allele frequency: 1.70772353028528e-3
allele num: 121214
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.*65C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.387C>T
  hgvsp: ENST00000279242.2:c.387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.268C>T
  hgvsp: ENST00000533943.1:c.268C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.208C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+1106C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.921C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.387C>T
  hgvsp: ENST00000526319.1:c.387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3313G>A
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.467C>T
  variant of: http://identifiers.org/hgnc/1176
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6836
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8848
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4847
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 5.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 12559
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13718
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 109
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 19057
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16943
  bin: 9.75e1
  variant carriers: 203
genotype quality: GenotypeQuality
  all individuals: 2989
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser129Ser
num of homozygotes: 3
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

11-64893232-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893232
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893232
    reference: chr 11
allele count: 4
allele frequency: 3.30011220381493e-5
allele num: 121208
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.270C>T
  hgvsp: ENSP00000434052.1:p.Pro91Leu
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+1108C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.210C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.389C>T
  hgvsp: ENSP00000279242.2:p.Pro130Leu
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.389C>T
  hgvsp: ENSP00000434190.1:p.Pro130Leu
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.*67C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.469C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3315G>A
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.923C>T
  variant of: http://identifiers.org/hgnc/1176
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2990
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6847
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4849
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro130Leu
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

11-64893233-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893233
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893233
    reference: chr 11
allele count: 4
allele frequency: 3.3000033000033e-5
allele num: 121212
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.390G>A
  hgvsp: ENST00000279242.2:c.390G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3316C>T
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.*68G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.390G>A
  hgvsp: ENST00000526319.1:c.390G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.470G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.924G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.211G>A
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.271G>A
  hgvsp: ENST00000533943.1:c.271G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+1109G>A
  variant of: http://identifiers.org/hgnc/1176
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4849
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13775
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19168
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3505
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4765
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro130Pro
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

11-64893237-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893237
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893237
    reference: chr 11
allele count: 1
allele frequency: 8.251642076773278e-6
allele num: 121188
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.394C>T
  hgvsp: ENST00000526319.1:c.394C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.215C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.474C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.275C>T
  hgvsp: ENST00000533943.1:c.275C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3320G>A
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+1113C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.394C>T
  hgvsp: ENST00000279242.2:c.394C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.928C>T
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.*72C>T
  variant of: http://identifiers.org/hgnc/1176
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13767
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8859
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6845
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4848
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4764
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3505
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu132Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

11-64893240-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893240
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893240
    reference: chr 11
allele count: 1
allele frequency: 8.25218682950982e-6
allele num: 121180
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.218G>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.931G>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.*75G>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.397G>C
  hgvsp: ENSP00000279242.2:p.Gly133Arg
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3323C>G
  variant of: http://identifiers.org/hgnc/20738
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.397G>C
  hgvsp: ENSP00000434190.1:p.Gly133Arg
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.477G>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.278G>C
  hgvsp: ENSP00000434052.1:p.Gly94Arg
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+1116G>C
  variant of: http://identifiers.org/hgnc/1176
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6845
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4848
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4759
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly133Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

11-64893266-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64893266
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 64893266
    reference: chr 11
allele count: 1
allele frequency: 8.268973158913126e-6
allele num: 120934
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434052
  ensembl transcript: ENST00000533943
  gene symbol: MRPL49
  hgvsc: ENST00000533943.1:c.304T>C
  hgvsp: ENST00000533943.1:c.304T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434222
  ensembl transcript: ENST00000534078
  gene symbol: MRPL49
  hgvsc: ENST00000534078.1:c.*101T>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000436740
  ensembl transcript: ENST00000531705
  gene symbol: MRPL49
  hgvsc: ENST00000531705.1:c.229+1142T>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000524482
  gene symbol: MRPL49
  hgvsc: ENST00000524482.1:n.503T>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000434190
  ensembl transcript: ENST00000526319
  gene symbol: MRPL49
  hgvsc: ENST00000526319.1:c.423T>C
  hgvsp: ENST00000526319.1:c.423T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149792
  ensembl protein: ENSP00000279242
  ensembl transcript: ENST00000279242
  gene symbol: MRPL49
  hgvsc: ENST00000279242.2:c.423T>C
  hgvsp: ENST00000279242.2:c.423T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000528529
  gene symbol: MRPL49
  hgvsc: ENST00000528529.1:n.244T>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149792
  ensembl transcript: ENST00000532671
  gene symbol: MRPL49
  hgvsc: ENST00000532671.1:n.957T>C
  variant of: http://identifiers.org/hgnc/1176
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162298
  ensembl transcript: ENST00000530451
  gene symbol: SYVN1
  hgvsc: ENST00000530451.1:n.259-3349A>G
  variant of: http://identifiers.org/hgnc/20738
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4845
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6843
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2107
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18977
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn141Asn
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4952
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7311
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4245
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17854
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3508
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17391
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2125
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.284e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.7e0

FS
type: SiteQuality
SIO_000300: 8.19e-1

QD
type: SiteQuality
SIO_000300: 1.331e1

DP
type: SiteQuality
SIO_000300: 2.317069e6

MQ
type: SiteQuality
SIO_000300: 5.978e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.09e-1

GenotypeQuality
all individuals: 7314
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4247
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3508
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17857
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2124
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4950
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17389
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3202
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998320940273447e-5
allele num: 66704
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQRankSum
type: SiteQuality
SIO_000300: -3.02e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.018e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 2.317229e6

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4248
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2125
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7315
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3202
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 0
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variant carriers: 0

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

GenotypeQuality
all individuals: 17872
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4951
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3509
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

FS
type: SiteQuality
SIO_000300: 1.437e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.676e0

VQSLOD
type: SiteQuality
SIO_000300: -1.249e0

MQRankSum
type: SiteQuality
SIO_000300: -6.76e-1

QD
type: SiteQuality
SIO_000300: 1.273e1

DP
type: SiteQuality
SIO_000300: 2.317192e6

MQ
type: SiteQuality
SIO_000300: 5.87e1

GenotypeQuality
all individuals: 7321
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 17874
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17386
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3200
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4248
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3510
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4948
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2126
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
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: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.42e-1

FS
type: SiteQuality
SIO_000300: 4.526e0

QD
type: SiteQuality
SIO_000300: 1.036e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.67e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.16e-1

DP
type: SiteQuality
SIO_000300: 2.317604e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.48e-1

GenotypeQuality
all individuals: 17385
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 7327
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2126
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4249
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3511
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3202
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4950
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 6.919999999999999e-1

QD
type: SiteQuality
SIO_000300: 9.75e0

VQSLOD
type: SiteQuality
SIO_000300: -3.407e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.513e0

MQRankSum
type: SiteQuality
SIO_000300: -1.371e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.0e-2

DP
type: SiteQuality
SIO_000300: 2.317537e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 17384
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3512
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4250
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 3205
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7328
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4951
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2125
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: -2.6e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.233e1

InbreedingCoeff
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SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.2e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.05e-1

MQ
type: SiteQuality
SIO_000300: 5.909e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.77e-1

DP
type: SiteQuality
SIO_000300: 2.317899e6

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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bin: 7.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

East Asian
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allele frequency: 1.155802126675913e-4
allele num: 8652
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QD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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VQSLOD
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SIO_000300: 9.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.46e-1

FS
type: SiteQuality
SIO_000300: 5.26e-1

DP
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MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
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SIO_000300: -1.25e0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66720
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 (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.923076923076923e-4
allele num: 10400
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.775e0

ReadPosRankSum
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SIO_000300: 3.31e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.052e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.77e-1

QD
type: SiteQuality
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DP
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SIO_000300: 2.317902e6

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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bin: 9.25e1
variant carriers: 0

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

South Asian
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allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997512064986062e-5
allele num: 66722
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.21e-1

MQRankSum
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SIO_000300: -3.84e-1

ClippingRankSum
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SIO_000300: -1.038e0

QD
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SIO_000300: 1.39e1

ReadPosRankSum
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SIO_000300: 1.76e0

VQSLOD
type: SiteQuality
SIO_000300: 5.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.317984e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

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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variant carriers: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997512064986062e-5
allele num: 66722
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
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
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 6.25e-1

ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 3.311e0

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.941e1

InbreedingCoeff
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SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.064e1

VQSLOD
type: SiteQuality
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DP
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SIO_000300: 2.317508e6

ClippingRankSum
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GenotypeQuality
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variant carriers: 2

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997512064986062e-5
allele num: 66722
num of homozygotes: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
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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: 6612
num of homozygotes: 0

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

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

African
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allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

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

MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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VQSLOD
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QD
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MQRankSum
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FS
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496268097479092e-5
allele num: 66722
num of homozygotes: 0

South Asian
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
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DP
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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FS
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

South Asian
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East Asian
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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InbreedingCoeff
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QD
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ReadPosRankSum
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MQ
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DP
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ClippingRankSum
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VQSLOD
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FS
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MQRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Finnish)
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Latino
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East Asian
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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VQSLOD
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DP
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQ
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FS
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BaseQRankSum
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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European (Finnish)
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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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MQRankSum
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VQSLOD
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BaseQRankSum
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QD
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InbreedingCoeff
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FS
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ClippingRankSum
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ReadPosRankSum
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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Latino
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South Asian
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East Asian
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African
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European (Finnish)
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QD
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DP
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FS
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MQ
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VQSLOD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Non-Finnish)
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Other
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European (Finnish)
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South Asian
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InbreedingCoeff
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QD
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ClippingRankSum
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MQ
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BaseQRankSum
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ReadPosRankSum
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DP
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FS
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MQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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Latino
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South Asian
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East Asian
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African
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Other
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ClippingRankSum
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FS
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InbreedingCoeff
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VQSLOD
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DP
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QD
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MQRankSum
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MQ
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Non-Finnish)
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East Asian
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Latino
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European (Finnish)
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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QD
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DP
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FS
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BaseQRankSum
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MQ
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VQSLOD
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MQRankSum
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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East Asian
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African
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South Asian
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VQSLOD
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MQRankSum
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MQ
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QD
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DP
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FS
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3512
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.857e0

QD
type: SiteQuality
SIO_000300: 1.929e1

FS
type: SiteQuality
SIO_000300: 3.808e0

VQSLOD
type: SiteQuality
SIO_000300: -7.387e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.37e-1

DP
type: SiteQuality
SIO_000300: 2.316499e6

GenotypeQuality
all individuals: 7334
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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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: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17891
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3199
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.09e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.113e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.187e1

DP
type: SiteQuality
SIO_000300: 2.316466e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.05e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.67e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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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

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7332
bin: 6.75e1
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GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.85e-1

QD
type: SiteQuality
SIO_000300: 1.324e1

MQRankSum
type: SiteQuality
SIO_000300: -5.31e-1

FS
type: SiteQuality
SIO_000300: 1.802e0

DP
type: SiteQuality
SIO_000300: 2.316622e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.286e0

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2126
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3511
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4948
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variant carriers: 0

GenotypeQuality
all individuals: 17381
bin: 9.75e1
variant carriers: 354

GenotypeQuality
all individuals: 7329
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 334
allele frequency: 3.210920976735243e-2
allele num: 10402
num of homozygotes: 1

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.199040767386091e-4
allele num: 66720
num of homozygotes: 0

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

Latino
type: Population
allele count: 12
allele frequency: 1.036806635562468e-3
allele num: 11574
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.111e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

QD
type: SiteQuality
SIO_000300: 1.36e1

VQSLOD
type: SiteQuality
SIO_000300: 4.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.47e-1

FS
type: SiteQuality
SIO_000300: 5.42e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

DP
type: SiteQuality
SIO_000300: 2.325972e6

GenotypeQuality
all individuals: 42
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

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

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

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 3212
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3532
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4258
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

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

GenotypeQuality
all individuals: 17970
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 4973
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2136
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

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

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.429e1

VQSLOD
type: SiteQuality
SIO_000300: 3.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.429999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.95e-1

DP
type: SiteQuality
SIO_000300: 2.30116e6

GenotypeQuality
all individuals: 17963
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

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

GenotypeQuality
all individuals: 17125
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

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

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.72e-1

QD
type: SiteQuality
SIO_000300: 1.027e1

MQ
type: SiteQuality
SIO_000300: 5.813e1

VQSLOD
type: SiteQuality
SIO_000300: -2.775e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.36e-1

DP
type: SiteQuality
SIO_000300: 2.301035e6

MQRankSum
type: SiteQuality
SIO_000300: -3.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.227e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 52
bin: 2.25e1
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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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
all individuals: 4974
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7373
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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: 8650
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 1.579e0

DP
type: SiteQuality
SIO_000300: 2.300827e6

QD
type: SiteQuality
SIO_000300: 1.72e1

InbreedingCoeff
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SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.88e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.232e-1

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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GenotypeQuality
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GenotypeQuality
all individuals: 17125
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.086e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.59e0

FS
type: SiteQuality
SIO_000300: 3.9e0

MQRankSum
type: SiteQuality
SIO_000300: -6.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.300811e6

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

GenotypeQuality
all individuals: 3532
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

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

South Asian
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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Latino
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East Asian
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Other
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DP
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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MQRankSum
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ClippingRankSum
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VQSLOD
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MQ
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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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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 2.99805126667666e-5
allele num: 66710
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East Asian
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European (Finnish)
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Latino
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allele frequency: 0.0e0
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African
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Other
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South Asian
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InbreedingCoeff
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ReadPosRankSum
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FS
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DP
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MQ
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ClippingRankSum
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VQSLOD
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QD
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BaseQRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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Other
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European (Non-Finnish)
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Latino
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East Asian
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VQSLOD
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MQRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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DP
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FS
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ReadPosRankSum
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

Latino
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European (Finnish)
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South Asian
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Other
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East Asian
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African
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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FS
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QD
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VQSLOD
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MQ
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InbreedingCoeff
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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African
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European (Finnish)
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Other
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European (Non-Finnish)
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South Asian
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QD
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MQ
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MQRankSum
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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Latino
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South Asian
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European (Non-Finnish)
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Other
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MQRankSum
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QD
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ClippingRankSum
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MQ
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DP
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FS
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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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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European (Non-Finnish)
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Other
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MQ
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VQSLOD
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FS
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QD
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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SIO_000300: 6.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 2.29896e6

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

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4960
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2138
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3208
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3531
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17103
bin: 9.75e1
variant carriers: 39

GenotypeQuality
all individuals: 7368
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 38
allele frequency: 4.395095998149434e-3
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.68e0

DP
type: SiteQuality
SIO_000300: 2.299037e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.663e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.322e1

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
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GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4255
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3207
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2141
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7364
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17070
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
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)
type: Population
allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

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

South Asian
type: Population
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: 908
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.75e-1

DP
type: SiteQuality
SIO_000300: 2.29637e6

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 1.641e1

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

GenotypeQuality
all individuals: 121
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
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variant carriers: 0

GenotypeQuality
all individuals: 2
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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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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7355
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4962
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3205
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2141
bin: 8.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.296009e6

VQSLOD
type: SiteQuality
SIO_000300: -1.061e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.52e-1

FS
type: SiteQuality
SIO_000300: 7.272e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.17e0

QD
type: SiteQuality
SIO_000300: 1.499e1

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3529
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4955
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variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2136
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variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

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

GenotypeQuality
all individuals: 3210
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7348
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4251
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 3.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.499775011249437e-5
allele num: 66670
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.817300702689605e-4
allele num: 16508
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 5.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.94e-1

QD
type: SiteQuality
SIO_000300: 1.272e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

DP
type: SiteQuality
SIO_000300: 2.295148e6

GenotypeQuality
all individuals: 2136
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7351
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17061
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
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variant carriers: 0

GenotypeQuality
all individuals: 4251
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 3529
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
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variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 3205
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4958
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.294522e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.17e-1

QD
type: SiteQuality
SIO_000300: 6.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.59e0

MQ
type: SiteQuality
SIO_000300: 5.17e1

FS
type: SiteQuality
SIO_000300: 1.148e0

MQRankSum
type: SiteQuality
SIO_000300: -4.821e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2132
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variant carriers: 0

GenotypeQuality
all individuals: 7312
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 4247
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variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 224
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variant carriers: 0

GenotypeQuality
all individuals: 4950
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
all individuals: 17692
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variant carriers: 0

GenotypeQuality
all individuals: 3527
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17057
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.44e0

FS
type: SiteQuality
SIO_000300: 2.336e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQ
type: SiteQuality
SIO_000300: 5.924e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.47e0

DP
type: SiteQuality
SIO_000300: 2.291853e6

QD
type: SiteQuality
SIO_000300: 1.487e1

VQSLOD
type: SiteQuality
SIO_000300: 6.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.98e-1

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 284
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 17501
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GenotypeQuality
all individuals: 7242
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variant carriers: 0

GenotypeQuality
all individuals: 107
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variant carriers: 0

GenotypeQuality
all individuals: 36
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variant carriers: 0

GenotypeQuality
all individuals: 67
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variant carriers: 0

GenotypeQuality
all individuals: 2131
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variant carriers: 0

GenotypeQuality
all individuals: 3185
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variant carriers: 0

GenotypeQuality
all individuals: 17
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GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 155
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variant carriers: 0

GenotypeQuality
all individuals: 134
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GenotypeQuality
all individuals: 17051
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4944
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3523
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4243
bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66614
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: 1
allele frequency: 9.648784253184099e-5
allele num: 10364
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.236e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.15e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

VQSLOD
type: SiteQuality
SIO_000300: 1.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.03e-1

DP
type: SiteQuality
SIO_000300: 2.287864e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.81e-2

QD
type: SiteQuality
SIO_000300: 2.393e1

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
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variant carriers: 0

GenotypeQuality
all individuals: 140
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variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 3166
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variant carriers: 0

GenotypeQuality
all individuals: 17
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GenotypeQuality
all individuals: 91
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GenotypeQuality
all individuals: 306
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variant carriers: 0

GenotypeQuality
all individuals: 60
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 128
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
all individuals: 4233
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variant carriers: 0

GenotypeQuality
all individuals: 17357
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 3
allele frequency: 2.898550724637681e-4
allele num: 10350
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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MQ
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InbreedingCoeff
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DP
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MQRankSum
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FS
type: SiteQuality
SIO_000300: 3.7e0

ReadPosRankSum
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BaseQRankSum
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SIO_000300: 3.43e0

VQSLOD
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SIO_000300: 5.01e-1

QD
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ClippingRankSum
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SIO_000300: -9.1e-2

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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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501862309263487e-5
allele num: 66584
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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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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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 count: 1
allele frequency: 1.501817198810561e-5
allele num: 66586
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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InbreedingCoeff
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FS
type: SiteQuality
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ClippingRankSum
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VQSLOD
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MQ
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MQRankSum
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DP
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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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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66580
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.070171178827243e-5
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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.055e0

FS
type: SiteQuality
SIO_000300: 6.147e0

DP
type: SiteQuality
SIO_000300: 2.284735e6

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

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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bin: 9.75e1
variant carriers: 5

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

East Asian
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allele count: 6
allele frequency: 6.965405154399814e-4
allele num: 8614
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66586
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 904
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.26e-1

ReadPosRankSum
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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SIO_000300: 3.92e-2

BaseQRankSum
type: SiteQuality
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DP
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QD
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

African
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allele frequency: 3.86324125941665e-4
allele num: 10354
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 count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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South Asian
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Other
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ClippingRankSum
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QD
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ReadPosRankSum
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MQ
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MQRankSum
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FS
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InbreedingCoeff
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VQSLOD
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DP
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BaseQRankSum
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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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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 66590
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East Asian
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Other
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African
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DP
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InbreedingCoeff
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VQSLOD
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MQ
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ReadPosRankSum
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FS
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MQRankSum
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BaseQRankSum
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

European (Non-Finnish)
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Other
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South Asian
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African
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Latino
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East Asian
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ReadPosRankSum
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QD
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FS
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MQRankSum
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ClippingRankSum
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DP
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MQ
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66618
num of homozygotes: 0

South Asian
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Latino
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East Asian
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African
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European (Finnish)
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.968e1

QD
type: SiteQuality
SIO_000300: 1.534e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.211e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.47e-1

FS
type: SiteQuality
SIO_000300: 7.55e-1

DP
type: SiteQuality
SIO_000300: 2.274952e6

VQSLOD
type: SiteQuality
SIO_000300: 2.91e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

GenotypeQuality
all individuals: 160
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3497
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17874
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4197
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.011e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

DP
type: SiteQuality
SIO_000300: 2.27355e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.78e0

GenotypeQuality
all individuals: 185
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4771
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 18346
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.087168249330411e-5
allele num: 16428
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 66672
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.343e0

VQSLOD
type: SiteQuality
SIO_000300: -1.35e0

QD
type: SiteQuality
SIO_000300: 1.348e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.784e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.74e0

FS
type: SiteQuality
SIO_000300: 5.956e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.16e-1

DP
type: SiteQuality
SIO_000300: 2.274259e6

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

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

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

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3013
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3494
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.418e0

VQSLOD
type: SiteQuality
SIO_000300: 5.16e-1

FS
type: SiteQuality
SIO_000300: 1.742e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.935e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.54e-1

DP
type: SiteQuality
SIO_000300: 2.274584e6

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 1.154e1

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6864
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4188
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18472
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17013
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3495
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 6.66e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.504e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
type: SiteQuality
SIO_000300: 2.274918e6

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.451e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.741e1

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
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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: 3.25e1
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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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4767
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.625e0

MQ
type: SiteQuality
SIO_000300: 5.875e1

DP
type: SiteQuality
SIO_000300: 2.275325e6

VQSLOD
type: SiteQuality
SIO_000300: -2.082e0

QD
type: SiteQuality
SIO_000300: 1.359e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.451e0

FS
type: SiteQuality
SIO_000300: 5.786e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.53e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.083465141744738e-5
allele num: 16438
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
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: 66662
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.952e1

QD
type: SiteQuality
SIO_000300: 1.417e1

DP
type: SiteQuality
SIO_000300: 2.275659e6

FS
type: SiteQuality
SIO_000300: 2.807e0

VQSLOD
type: SiteQuality
SIO_000300: 7.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.624e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

GenotypeQuality
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bin: 6.25e1
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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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17013
bin: 9.75e1
variant carriers: 2

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: 8654
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.216249087813184e-4
allele num: 16444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.889999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

FS
type: SiteQuality
SIO_000300: 3.424e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 2.27552e6

QD
type: SiteQuality
SIO_000300: 1.575e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.78e-1

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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variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500060002400096e-5
allele num: 66664
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
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MQ
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SIO_000300: 5.879e1

VQSLOD
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QD
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BaseQRankSum
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SIO_000300: -1.796e0

ReadPosRankSum
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SIO_000300: 1.92e0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16466
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.5004651441947e-5
allele num: 66646
num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.925298421255295e-4
allele num: 10388
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 906
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 0.0e0

ReadPosRankSum
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QD
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FS
type: SiteQuality
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DP
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BaseQRankSum
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MQRankSum
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SIO_000300: -1.48e-1

MQ
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SIO_000300: 5.953e1

ClippingRankSum
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SIO_000300: -3.74e-1

VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

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

Latino
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allele count: 9
allele frequency: 7.776049766718507e-4
allele num: 11574
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.073858114674441e-5
allele num: 16464
num of homozygotes: 0

African
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allele count: 275
allele frequency: 2.647795108800308e-2
allele num: 10386
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European (Non-Finnish)
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allele count: 11
allele frequency: 1.650462129396231e-4
allele num: 66648
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

DP
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SIO_000300: 2.308047e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.84e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.75e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.18e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.35e-1

QD
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SIO_000300: 1.293e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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)
type: Population
allele count: 15
allele frequency: 2.251778905335215e-4
allele num: 66614
num of homozygotes: 0

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

Latino
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allele count: 2
allele frequency: 1.728309713100588e-4
allele num: 11572
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
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South Asian
type: Population
allele count: 190
allele frequency: 1.152493024384326e-2
allele num: 16486
num of homozygotes: 3

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-1

QD
type: SiteQuality
SIO_000300: 1.268e1

MQ
type: SiteQuality
SIO_000300: 5.976e1

VQSLOD
type: SiteQuality
SIO_000300: 4.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.38e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.26e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.035e0

DP
type: SiteQuality
SIO_000300: 2.283872e6

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.50355781067043e-5
allele num: 66614
num of homozygotes: 0

South Asian
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allele frequency: 6.065752759917505e-5
allele num: 16486
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Latino
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-2

MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
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SIO_000300: 2.268422e6

QD
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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SIO_000300: 0.0e0

VQSLOD
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ReadPosRankSum
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SIO_000300: 2.06e-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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Other
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allele num: 906
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 9.650646593321752e-5
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.002191599867904e-5
allele num: 66618
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East Asian
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allele num: 8654
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South Asian
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Latino
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
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FS
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DP
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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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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Other
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.501456412720339e-5
allele num: 66602
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East Asian
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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DP
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FS
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ReadPosRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
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num of homozygotes: 0

Latino
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Other
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European (Finnish)
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East Asian
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African
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European (Non-Finnish)
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allele num: 66602
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FS
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ReadPosRankSum
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DP
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MQRankSum
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MQ
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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