11-73471668-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73471668
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73471668
    reference: chr 11
allele count: 1
allele frequency: 1.23851279383716e-5
allele num: 80742
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000336850
  ensembl transcript: ENST00000336083
  gene symbol: RAB6A
  hgvsc: ENST00000336083.3:c.13G>A
  hgvsp: ENSP00000336850.3:p.Gly5Arg
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000445350
  ensembl transcript: ENST00000541588
  gene symbol: RAB6A
  hgvsc: ENST00000541588.1:c.13G>A
  hgvsp: ENSP00000445350.1:p.Gly5Arg
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000256034
  ensembl transcript: ENST00000540547
  gene symbol: RP11-707G14.1
  hgvsc: ENST00000540547.1:n.61C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000443470
  ensembl transcript: ENST00000537446
  gene symbol: RAB6A
  hgvsc: ENST00000537446.1:c.13G>A
  hgvsp: ENSP00000443470.1:p.Gly5Arg
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175582
  ensembl transcript: ENST00000541795
  gene symbol: RAB6A
  hgvsc: ENST00000541795.1:n.395G>A
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000438842
  ensembl transcript: ENST00000540771
  gene symbol: RAB6A
  hgvsc: ENST00000540771.1:c.13G>A
  hgvsp: ENSP00000438842.1:p.Gly5Arg
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000440469
  ensembl transcript: ENST00000545625
  gene symbol: RAB6A
  hgvsc: ENST00000545625.1:c.13G>A
  hgvsp: ENSP00000440469.1:p.Gly5Arg
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000311449
  ensembl transcript: ENST00000310653
  gene symbol: RAB6A
  hgvsc: ENST00000310653.6:c.13G>A
  hgvsp: ENSP00000311449.5:p.Gly5Arg
  variant of: http://identifiers.org/hgnc/9786
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10709
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18900
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5485
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25394
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20244
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly5Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP

11-73471672-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73471672
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73471672
    reference: chr 11
allele count: 1
allele frequency: 1.250969501363557e-5
allele num: 79938
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000440469
  ensembl transcript: ENST00000545625
  gene symbol: RAB6A
  hgvsc: ENST00000545625.1:c.9G>C
  hgvsp: ENST00000545625.1:c.9G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000336850
  ensembl transcript: ENST00000336083
  gene symbol: RAB6A
  hgvsc: ENST00000336083.3:c.9G>C
  hgvsp: ENST00000336083.3:c.9G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000438842
  ensembl transcript: ENST00000540771
  gene symbol: RAB6A
  hgvsc: ENST00000540771.1:c.9G>C
  hgvsp: ENST00000540771.1:c.9G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000311449
  ensembl transcript: ENST00000310653
  gene symbol: RAB6A
  hgvsc: ENST00000310653.6:c.9G>C
  hgvsp: ENST00000310653.6:c.9G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175582
  ensembl transcript: ENST00000541795
  gene symbol: RAB6A
  hgvsc: ENST00000541795.1:n.391G>C
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000445350
  ensembl transcript: ENST00000541588
  gene symbol: RAB6A
  hgvsc: ENST00000541588.1:c.9G>C
  hgvsp: ENST00000541588.1:c.9G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000256034
  ensembl transcript: ENST00000540547
  gene symbol: RP11-707G14.1
  hgvsc: ENST00000540547.1:n.65C>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000443470
  ensembl transcript: ENST00000537446
  gene symbol: RAB6A
  hgvsc: ENST00000537446.1:c.9G>C
  hgvsp: ENST00000537446.1:c.9G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9786
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19208
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11827
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1938
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1945
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr3Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

11-73471673-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73471673
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73471673
    reference: chr 11
allele count: 1
allele frequency: 1.275510204081633e-5
allele num: 78400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000443470
  ensembl transcript: ENST00000537446
  gene symbol: RAB6A
  hgvsc: ENST00000537446.1:c.8C>T
  hgvsp: ENSP00000443470.1:p.Thr3Met
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000336850
  ensembl transcript: ENST00000336083
  gene symbol: RAB6A
  hgvsc: ENST00000336083.3:c.8C>T
  hgvsp: ENSP00000336850.3:p.Thr3Met
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000445350
  ensembl transcript: ENST00000541588
  gene symbol: RAB6A
  hgvsc: ENST00000541588.1:c.8C>T
  hgvsp: ENSP00000445350.1:p.Thr3Met
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000440469
  ensembl transcript: ENST00000545625
  gene symbol: RAB6A
  hgvsc: ENST00000545625.1:c.8C>T
  hgvsp: ENSP00000440469.1:p.Thr3Met
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000438842
  ensembl transcript: ENST00000540771
  gene symbol: RAB6A
  hgvsc: ENST00000540771.1:c.8C>T
  hgvsp: ENSP00000438842.1:p.Thr3Met
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000256034
  ensembl transcript: ENST00000540547
  gene symbol: RP11-707G14.1
  hgvsc: ENST00000540547.1:n.66G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175582
  ensembl transcript: ENST00000541795
  gene symbol: RAB6A
  hgvsc: ENST00000541795.1:n.390C>T
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000311449
  ensembl transcript: ENST00000310653
  gene symbol: RAB6A
  hgvsc: ENST00000310653.6:c.8C>T
  hgvsp: ENSP00000311449.5:p.Thr3Met
  variant of: http://identifiers.org/hgnc/9786
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5262
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19655
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2555
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr3Met
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

11-73471674-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73471674
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73471674
    reference: chr 11
allele count: 1
allele frequency: 1.272653227448585e-5
allele num: 78576
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000445350
  ensembl transcript: ENST00000541588
  gene symbol: RAB6A
  hgvsc: ENST00000541588.1:c.7A>C
  hgvsp: ENSP00000445350.1:p.Thr3Pro
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000336850
  ensembl transcript: ENST00000336083
  gene symbol: RAB6A
  hgvsc: ENST00000336083.3:c.7A>C
  hgvsp: ENSP00000336850.3:p.Thr3Pro
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000438842
  ensembl transcript: ENST00000540771
  gene symbol: RAB6A
  hgvsc: ENST00000540771.1:c.7A>C
  hgvsp: ENSP00000438842.1:p.Thr3Pro
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000440469
  ensembl transcript: ENST00000545625
  gene symbol: RAB6A
  hgvsc: ENST00000545625.1:c.7A>C
  hgvsp: ENSP00000440469.1:p.Thr3Pro
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175582
  ensembl transcript: ENST00000541795
  gene symbol: RAB6A
  hgvsc: ENST00000541795.1:n.389A>C
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000256034
  ensembl transcript: ENST00000540547
  gene symbol: RP11-707G14.1
  hgvsc: ENST00000540547.1:n.67T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000443470
  ensembl transcript: ENST00000537446
  gene symbol: RAB6A
  hgvsc: ENST00000537446.1:c.7A>C
  hgvsp: ENSP00000443470.1:p.Thr3Pro
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000311449
  ensembl transcript: ENST00000310653
  gene symbol: RAB6A
  hgvsc: ENST00000310653.6:c.7A>C
  hgvsp: ENSP00000311449.5:p.Thr3Pro
  variant of: http://identifiers.org/hgnc/9786
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19723
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13307
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2554
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27757
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr3Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-73471685-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73471685
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73471685
    reference: chr 11
allele count: 1
allele frequency: 1.331593384644065e-5
allele num: 75098
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175582
  ensembl transcript: ENST00000541795
  gene symbol: RAB6A
  hgvsc: ENST00000541795.1:n.378C>G
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000443470
  ensembl transcript: ENST00000537446
  gene symbol: RAB6A
  hgvsc: ENST00000537446.1:c.-5C>G
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000438842
  ensembl transcript: ENST00000540771
  gene symbol: RAB6A
  hgvsc: ENST00000540771.1:c.-5C>G
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000445350
  ensembl transcript: ENST00000541588
  gene symbol: RAB6A
  hgvsc: ENST00000541588.1:c.-5C>G
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000336850
  ensembl transcript: ENST00000336083
  gene symbol: RAB6A
  hgvsc: ENST00000336083.3:c.-5C>G
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000256034
  ensembl transcript: ENST00000540547
  gene symbol: RP11-707G14.1
  hgvsc: ENST00000540547.1:n.78G>C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000311449
  ensembl transcript: ENST00000310653
  gene symbol: RAB6A
  hgvsc: ENST00000310653.6:c.-5C>G
  variant of: http://identifiers.org/hgnc/9786
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16823
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10975
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11933
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2828
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/11-73471688-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73471688
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73471688
    reference: chr 11
allele count: 3
allele frequency: 4.042908738073419e-5
allele num: 74204
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000445350
  ensembl transcript: ENST00000541588
  gene symbol: RAB6A
  hgvsc: ENST00000541588.1:c.-8G>T
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000311449
  ensembl transcript: ENST00000310653
  gene symbol: RAB6A
  hgvsc: ENST00000310653.6:c.-8G>T
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000443470
  ensembl transcript: ENST00000537446
  gene symbol: RAB6A
  hgvsc: ENST00000537446.1:c.-8G>T
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000336850
  ensembl transcript: ENST00000336083
  gene symbol: RAB6A
  hgvsc: ENST00000336083.3:c.-8G>T
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000438842
  ensembl transcript: ENST00000540771
  gene symbol: RAB6A
  hgvsc: ENST00000540771.1:c.-8G>T
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000256034
  ensembl transcript: ENST00000540547
  gene symbol: RP11-707G14.1
  hgvsc: ENST00000540547.1:n.81C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175582
  ensembl transcript: ENST00000541795
  gene symbol: RAB6A
  hgvsc: ENST00000541795.1:n.375G>T
  variant of: http://identifiers.org/hgnc/9786
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20544
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17443
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10042
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30234
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3221
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3188
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

11-73471691-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73471691
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73471691
    reference: chr 11
allele count: 1
allele frequency: 1.373098258911408e-5
allele num: 72828
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000336850
  ensembl transcript: ENST00000336083
  gene symbol: RAB6A
  hgvsc: ENST00000336083.3:c.-11C>T
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000445350
  ensembl transcript: ENST00000541588
  gene symbol: RAB6A
  hgvsc: ENST00000541588.1:c.-11C>T
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000443470
  ensembl transcript: ENST00000537446
  gene symbol: RAB6A
  hgvsc: ENST00000537446.1:c.-11C>T
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000438842
  ensembl transcript: ENST00000540771
  gene symbol: RAB6A
  hgvsc: ENST00000540771.1:c.-11C>T
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175582
  ensembl transcript: ENST00000541795
  gene symbol: RAB6A
  hgvsc: ENST00000541795.1:n.372C>T
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000311449
  ensembl transcript: ENST00000310653
  gene symbol: RAB6A
  hgvsc: ENST00000310653.6:c.-11C>T
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000256034
  ensembl transcript: ENST00000540547
  gene symbol: RP11-707G14.1
  hgvsc: ENST00000540547.1:n.84G>A
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20803
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18111
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30209
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1435
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9744
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3415
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3598
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

11-73471693-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73471693
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73471693
    reference: chr 11
allele count: 1
allele frequency: 1.401620273035629e-5
allele num: 71346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000336850
  ensembl transcript: ENST00000336083
  gene symbol: RAB6A
  hgvsc: ENST00000336083.3:c.-13C>T
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000438842
  ensembl transcript: ENST00000540771
  gene symbol: RAB6A
  hgvsc: ENST00000540771.1:c.-13C>T
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175582
  ensembl transcript: ENST00000541795
  gene symbol: RAB6A
  hgvsc: ENST00000541795.1:n.370C>T
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000311449
  ensembl transcript: ENST00000310653
  gene symbol: RAB6A
  hgvsc: ENST00000310653.6:c.-13C>T
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000445350
  ensembl transcript: ENST00000541588
  gene symbol: RAB6A
  hgvsc: ENST00000541588.1:c.-13C>T
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000443470
  ensembl transcript: ENST00000537446
  gene symbol: RAB6A
  hgvsc: ENST00000537446.1:c.-13C>T
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000256034
  ensembl transcript: ENST00000540547
  gene symbol: RP11-707G14.1
  hgvsc: ENST00000540547.1:n.86G>A
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20992
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3431
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18520
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4073
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1596
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3755
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/11-73471697-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73471697
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73471697
    reference: chr 11
allele count: 2
allele frequency: 2.898130705694827e-5
allele num: 69010
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000438842
  ensembl transcript: ENST00000540771
  gene symbol: RAB6A
  hgvsc: ENST00000540771.1:c.-17G>T
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000443470
  ensembl transcript: ENST00000537446
  gene symbol: RAB6A
  hgvsc: ENST00000537446.1:c.-17G>T
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000445350
  ensembl transcript: ENST00000541588
  gene symbol: RAB6A
  hgvsc: ENST00000541588.1:c.-17G>T
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000336850
  ensembl transcript: ENST00000336083
  gene symbol: RAB6A
  hgvsc: ENST00000336083.3:c.-17G>T
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000256034
  ensembl transcript: ENST00000540547
  gene symbol: RP11-707G14.1
  hgvsc: ENST00000540547.1:n.90C>A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000311449
  ensembl transcript: ENST00000310653
  gene symbol: RAB6A
  hgvsc: ENST00000310653.6:c.-17G>T
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175582
  ensembl transcript: ENST00000541795
  gene symbol: RAB6A
  hgvsc: ENST00000541795.1:n.366G>T
  variant of: http://identifiers.org/hgnc/9786
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18902
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3474
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4585
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28811
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2407
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6969
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3925
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

11-73471704-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73471704
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73471704
    reference: chr 11
allele count: 16
allele frequency: 2.373253433801062e-4
allele num: 67418
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000445350
  ensembl transcript: ENST00000541588
  gene symbol: RAB6A
  hgvsc: ENST00000541588.1:c.-24G>A
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000256034
  ensembl transcript: ENST00000540547
  gene symbol: RP11-707G14.1
  hgvsc: ENST00000540547.1:n.97C>T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000336850
  ensembl transcript: ENST00000336083
  gene symbol: RAB6A
  hgvsc: ENST00000336083.3:c.-24G>A
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000438842
  ensembl transcript: ENST00000540771
  gene symbol: RAB6A
  hgvsc: ENST00000540771.1:c.-24G>A
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000311449
  ensembl transcript: ENST00000310653
  gene symbol: RAB6A
  hgvsc: ENST00000310653.6:c.-24G>A
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175582
  ensembl transcript: ENST00000541795
  gene symbol: RAB6A
  hgvsc: ENST00000541795.1:n.359G>A
  variant of: http://identifiers.org/hgnc/9786
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19236
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4754
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21683
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6099
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3866
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4136
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 6.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

11-73471711-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73471711
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73471711
    reference: chr 11
allele count: 1
allele frequency: 1.536003932170066e-5
allele num: 65104
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175582
  ensembl transcript: ENST00000541795
  gene symbol: RAB6A
  hgvsc: ENST00000541795.1:n.352C>T
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000336850
  ensembl transcript: ENST00000336083
  gene symbol: RAB6A
  hgvsc: ENST00000336083.3:c.-31C>T
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000311449
  ensembl transcript: ENST00000310653
  gene symbol: RAB6A
  hgvsc: ENST00000310653.6:c.-31C>T
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000438842
  ensembl transcript: ENST00000540771
  gene symbol: RAB6A
  hgvsc: ENST00000540771.1:c.-31C>T
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000256034
  ensembl transcript: ENST00000540547
  gene symbol: RP11-707G14.1
  hgvsc: ENST00000540547.1:n.104G>A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000445350
  ensembl transcript: ENST00000541588
  gene symbol: RAB6A
  hgvsc: ENST00000541588.1:c.-31C>T
  variant of: http://identifiers.org/hgnc/9786
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21894
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5709
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5085
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29152
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4271
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6440
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5495
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1764
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

11-73471714-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73471714
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73471714
    reference: chr 11
allele count: 4
allele frequency: 6.252931061435048e-5
allele num: 63970
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000445350
  ensembl transcript: ENST00000541588
  gene symbol: RAB6A
  hgvsc: ENST00000541588.1:c.-34A>G
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000256034
  ensembl transcript: ENST00000540547
  gene symbol: RP11-707G14.1
  hgvsc: ENST00000540547.1:n.107T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175582
  ensembl transcript: ENST00000541795
  gene symbol: RAB6A
  hgvsc: ENST00000541795.1:n.349A>G
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000438842
  ensembl transcript: ENST00000540771
  gene symbol: RAB6A
  hgvsc: ENST00000540771.1:c.-34A>G
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000311449
  ensembl transcript: ENST00000310653
  gene symbol: RAB6A
  hgvsc: ENST00000310653.6:c.-34A>G
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000336850
  ensembl transcript: ENST00000336083
  gene symbol: RAB6A
  hgvsc: ENST00000336083.3:c.-34A>G
  variant of: http://identifiers.org/hgnc/9786
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4582
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18902
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21996
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3579
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7048
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2415
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4330
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1672
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

11-73471716-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73471716
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73471716
    reference: chr 11
allele count: 1
allele frequency: 1.60333493666827e-5
allele num: 62370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000438842
  ensembl transcript: ENST00000540771
  gene symbol: RAB6A
  hgvsc: ENST00000540771.1:c.-36C>T
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000311449
  ensembl transcript: ENST00000310653
  gene symbol: RAB6A
  hgvsc: ENST00000310653.6:c.-36C>T
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000256034
  ensembl transcript: ENST00000540547
  gene symbol: RP11-707G14.1
  hgvsc: ENST00000540547.1:n.109G>A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000445350
  ensembl transcript: ENST00000541588
  gene symbol: RAB6A
  hgvsc: ENST00000541588.1:c.-36C>T
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175582
  ensembl transcript: ENST00000541795
  gene symbol: RAB6A
  hgvsc: ENST00000541795.1:n.347C>T
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000336850
  ensembl transcript: ENST00000336083
  gene symbol: RAB6A
  hgvsc: ENST00000336083.3:c.-36C>T
  variant of: http://identifiers.org/hgnc/9786
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18259
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6511
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4076
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2745
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3169
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4272
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7708
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

11-73471716-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73471716
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73471716
    reference: chr 11
allele count: 1
allele frequency: 1.60333493666827e-5
allele num: 62370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000336850
  ensembl transcript: ENST00000336083
  gene symbol: RAB6A
  hgvsc: ENST00000336083.3:c.-36C>G
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000256034
  ensembl transcript: ENST00000540547
  gene symbol: RP11-707G14.1
  hgvsc: ENST00000540547.1:n.109G>C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000438842
  ensembl transcript: ENST00000540771
  gene symbol: RAB6A
  hgvsc: ENST00000540771.1:c.-36C>G
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000445350
  ensembl transcript: ENST00000541588
  gene symbol: RAB6A
  hgvsc: ENST00000541588.1:c.-36C>G
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000311449
  ensembl transcript: ENST00000310653
  gene symbol: RAB6A
  hgvsc: ENST00000310653.6:c.-36C>G
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175582
  ensembl transcript: ENST00000541795
  gene symbol: RAB6A
  hgvsc: ENST00000541795.1:n.347C>G
  variant of: http://identifiers.org/hgnc/9786
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6511
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4076
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2745
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4272
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3169
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26073
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4333
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

11-73471718-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73471718
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73471718
    reference: chr 11
allele count: 3
allele frequency: 5.042525296668572e-5
allele num: 59494
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000336850
  ensembl transcript: ENST00000336083
  gene symbol: RAB6A
  hgvsc: ENST00000336083.3:c.-38C>T
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175582
  ensembl transcript: ENST00000541795
  gene symbol: RAB6A
  hgvsc: ENST00000541795.1:n.345C>T
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000438842
  ensembl transcript: ENST00000540771
  gene symbol: RAB6A
  hgvsc: ENST00000540771.1:c.-38C>T
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000445350
  ensembl transcript: ENST00000541588
  gene symbol: RAB6A
  hgvsc: ENST00000541588.1:c.-38C>T
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000311449
  ensembl transcript: ENST00000310653
  gene symbol: RAB6A
  hgvsc: ENST00000310653.6:c.-38C>T
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000256034
  ensembl transcript: ENST00000540547
  gene symbol: RP11-707G14.1
  hgvsc: ENST00000540547.1:n.111G>A
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17221
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23307
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6674
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4380
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8238
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3646
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22680
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4190
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4112
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4783
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

11-73471719-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73471719
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73471719
    reference: chr 11
allele count: 7
allele frequency: 1.184914347620015e-4
allele num: 59076
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000438842
  ensembl transcript: ENST00000540771
  gene symbol: RAB6A
  hgvsc: ENST00000540771.1:c.-39T>C
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000336850
  ensembl transcript: ENST00000336083
  gene symbol: RAB6A
  hgvsc: ENST00000336083.3:c.-39T>C
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000311449
  ensembl transcript: ENST00000310653
  gene symbol: RAB6A
  hgvsc: ENST00000310653.6:c.-39T>C
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000445350
  ensembl transcript: ENST00000541588
  gene symbol: RAB6A
  hgvsc: ENST00000541588.1:c.-39T>C
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175582
  ensembl transcript: ENST00000541795
  gene symbol: RAB6A
  hgvsc: ENST00000541795.1:n.344T>C
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000256034
  ensembl transcript: ENST00000540547
  gene symbol: RP11-707G14.1
  hgvsc: ENST00000540547.1:n.112A>G
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6672
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23309
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17240
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4214
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1959
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22393
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8203
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4943
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3639
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4255
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

11-73471723-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73471723
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73471723
    reference: chr 11
allele count: 2
allele frequency: 3.41740140796938e-5
allele num: 58524
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000311449
  ensembl transcript: ENST00000310653
  gene symbol: RAB6A
  hgvsc: ENST00000310653.6:c.-43G>A
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000256034
  ensembl transcript: ENST00000540547
  gene symbol: RP11-707G14.1
  hgvsc: ENST00000540547.1:n.116C>T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000336850
  ensembl transcript: ENST00000336083
  gene symbol: RAB6A
  hgvsc: ENST00000336083.3:c.-43G>A
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175582
  ensembl transcript: ENST00000541795
  gene symbol: RAB6A
  hgvsc: ENST00000541795.1:n.340G>A
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000438842
  ensembl transcript: ENST00000540771
  gene symbol: RAB6A
  hgvsc: ENST00000540771.1:c.-43G>A
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000445350
  ensembl transcript: ENST00000541588
  gene symbol: RAB6A
  hgvsc: ENST00000541588.1:c.-43G>A
  variant of: http://identifiers.org/hgnc/9786
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6745
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23941
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16658
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1936
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4139
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4420
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4254
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8387
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

11-73471726-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73471726
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73471726
    reference: chr 11
allele count: 1
allele frequency: 1.780246386099836e-5
allele num: 56172
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000445350
  ensembl transcript: ENST00000541588
  gene symbol: RAB6A
  hgvsc: ENST00000541588.1:c.-46C>T
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000256034
  ensembl transcript: ENST00000540547
  gene symbol: RP11-707G14.1
  hgvsc: ENST00000540547.1:n.119G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175582
  ensembl transcript: ENST00000541795
  gene symbol: RAB6A
  hgvsc: ENST00000541795.1:n.337C>T
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000438842
  ensembl transcript: ENST00000540771
  gene symbol: RAB6A
  hgvsc: ENST00000540771.1:c.-46C>T
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000336850
  ensembl transcript: ENST00000336083
  gene symbol: RAB6A
  hgvsc: ENST00000336083.3:c.-46C>T
  variant of: http://identifiers.org/hgnc/9786
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175582
  ensembl protein: ENSP00000311449
  ensembl transcript: ENST00000310653
  gene symbol: RAB6A
  hgvsc: ENST00000310653.6:c.-46C>T
  variant of: http://identifiers.org/hgnc/9786
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6775
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15764
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24933
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3343
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1969
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4219
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4067
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20607
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5663
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8516
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

11-73498967-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73498967
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73498967
    reference: chr 11
allele count: 3
allele frequency: 2.530577815267819e-5
allele num: 118550
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  hgvsc: ENST00000535529.1:c.-162C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  hgvsc: ENST00000508278.2:c.-50C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  hgvsc: ENST00000310614.7:c.-50C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  hgvsc: ENST00000544819.1:c.-50C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  hgvsc: ENST00000540162.1:c.-50C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  hgvsc: ENST00000411840.2:c.-600C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  hgvsc: ENST00000398483.3:c.-465C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  hgvsc: ENST00000497094.2:c.-468C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  hgvsc: ENST00000535277.1:c.-503C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  hgvsc: ENST00000542303.1:c.-50C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  hgvsc: ENST00000544140.1:c.-50C>T
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8006
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3430
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12066
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12596
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5802
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

11-73498968-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73498968
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73498968
    reference: chr 11
allele count: 3
allele frequency: 2.528487627267211e-5
allele num: 118648
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  hgvsc: ENST00000497094.2:c.-467A>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  hgvsc: ENST00000542303.1:c.-49A>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  hgvsc: ENST00000411840.2:c.-599A>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  hgvsc: ENST00000540162.1:c.-49A>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  hgvsc: ENST00000544140.1:c.-49A>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  hgvsc: ENST00000535529.1:c.-161A>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  hgvsc: ENST00000508278.2:c.-49A>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  hgvsc: ENST00000310614.7:c.-49A>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  hgvsc: ENST00000535277.1:c.-502A>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  hgvsc: ENST00000398483.3:c.-464A>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  hgvsc: ENST00000544819.1:c.-49A>G
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5799
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7564
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ

11-73498969-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73498969
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73498969
    reference: chr 11
allele count: 3
allele frequency: 2.526996748597517e-5
allele num: 118718
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  hgvsc: ENST00000497094.2:c.-466G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  hgvsc: ENST00000508278.2:c.-48G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  hgvsc: ENST00000398483.3:c.-463G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  hgvsc: ENST00000310614.7:c.-48G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  hgvsc: ENST00000540162.1:c.-48G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  hgvsc: ENST00000535277.1:c.-501G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  hgvsc: ENST00000544819.1:c.-48G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  hgvsc: ENST00000535529.1:c.-160G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  hgvsc: ENST00000411840.2:c.-598G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  hgvsc: ENST00000542303.1:c.-48G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  hgvsc: ENST00000544140.1:c.-48G>A
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5799
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9046
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ

11-73498970-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73498970
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73498970
    reference: chr 11
allele count: 1
allele frequency: 8.421194462222522e-6
allele num: 118748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  hgvsc: ENST00000508278.2:c.-47G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  hgvsc: ENST00000310614.7:c.-47G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  hgvsc: ENST00000497094.2:c.-465G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  hgvsc: ENST00000535529.1:c.-159G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  hgvsc: ENST00000544819.1:c.-47G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  hgvsc: ENST00000544140.1:c.-47G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  hgvsc: ENST00000411840.2:c.-597G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  hgvsc: ENST00000542303.1:c.-47G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  hgvsc: ENST00000398483.3:c.-462G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  hgvsc: ENST00000540162.1:c.-47G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  hgvsc: ENST00000535277.1:c.-500G>A
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12726
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6803
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5803
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD

11-73498973-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73498973
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73498973
    reference: chr 11
allele count: 2
allele frequency: 1.684295627568551e-5
allele num: 118744
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  hgvsc: ENST00000497094.2:c.-462C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  hgvsc: ENST00000398483.3:c.-459C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  hgvsc: ENST00000544819.1:c.-44C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  hgvsc: ENST00000540162.1:c.-44C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  hgvsc: ENST00000411840.2:c.-594C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  hgvsc: ENST00000542303.1:c.-44C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  hgvsc: ENST00000544140.1:c.-44C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  hgvsc: ENST00000508278.2:c.-44C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  hgvsc: ENST00000535529.1:c.-156C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  hgvsc: ENST00000535277.1:c.-497C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  hgvsc: ENST00000310614.7:c.-44C>T
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12853
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5822
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5585
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD

11-73498974-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73498974
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73498974
    reference: chr 11
allele count: 1
allele frequency: 8.42715566641947e-6
allele num: 118664
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  hgvsc: ENST00000497094.2:c.-461C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  hgvsc: ENST00000544819.1:c.-43C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  hgvsc: ENST00000544140.1:c.-43C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  hgvsc: ENST00000398483.3:c.-458C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  hgvsc: ENST00000508278.2:c.-43C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  hgvsc: ENST00000411840.2:c.-593C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  hgvsc: ENST00000542303.1:c.-43C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  hgvsc: ENST00000540162.1:c.-43C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  hgvsc: ENST00000535277.1:c.-496C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  hgvsc: ENST00000310614.7:c.-43C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  hgvsc: ENST00000535529.1:c.-155C>G
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12938
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

11-73498974-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73498974
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73498974
    reference: chr 11
allele count: 1
allele frequency: 8.42715566641947e-6
allele num: 118664
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  hgvsc: ENST00000411840.2:c.-593C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  hgvsc: ENST00000535277.1:c.-496C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  hgvsc: ENST00000540162.1:c.-43C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  hgvsc: ENST00000535529.1:c.-155C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  hgvsc: ENST00000310614.7:c.-43C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  hgvsc: ENST00000497094.2:c.-461C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  hgvsc: ENST00000398483.3:c.-458C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  hgvsc: ENST00000508278.2:c.-43C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  hgvsc: ENST00000544819.1:c.-43C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  hgvsc: ENST00000544140.1:c.-43C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  hgvsc: ENST00000542303.1:c.-43C>T
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

11-73498975-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73498975
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73498975
    reference: chr 11
allele count: 1
allele frequency: 8.422754914677492e-6
allele num: 118726
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  hgvsc: ENST00000542303.1:c.-42G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  hgvsc: ENST00000508278.2:c.-42G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  hgvsc: ENST00000544140.1:c.-42G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  hgvsc: ENST00000398483.3:c.-457G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  hgvsc: ENST00000540162.1:c.-42G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  hgvsc: ENST00000535529.1:c.-154G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  hgvsc: ENST00000411840.2:c.-592G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  hgvsc: ENST00000497094.2:c.-460G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  hgvsc: ENST00000535277.1:c.-495G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  hgvsc: ENST00000544819.1:c.-42G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000446144
  ensembl transcript: ENST00000537007
  gene symbol: MRPL48
  hgvsc: ENST00000537007.1:c.-248G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  hgvsc: ENST00000310614.7:c.-42G>C
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

11-73498981-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73498981
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73498981
    reference: chr 11
allele count: 50
allele frequency: 4.208187449501751e-4
allele num: 118816
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  hgvsc: ENST00000535529.1:c.-148C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  hgvsc: ENST00000310614.7:c.-36C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  hgvsc: ENST00000544140.1:c.-36C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  hgvsc: ENST00000542303.1:c.-36C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  hgvsc: ENST00000508278.2:c.-36C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  hgvsc: ENST00000398483.3:c.-451C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  hgvsc: ENST00000535277.1:c.-489C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  hgvsc: ENST00000497094.2:c.-454C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  hgvsc: ENST00000544819.1:c.-36C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  hgvsc: ENST00000411840.2:c.-586C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000446144
  ensembl transcript: ENST00000537007
  gene symbol: MRPL48
  hgvsc: ENST00000537007.1:c.-242C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  hgvsc: ENST00000540162.1:c.-36C>T
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5867
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13380
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9576
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16303
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP

11-73498986-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73498986
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73498986
    reference: chr 11
allele count: 1
allele frequency: 8.409155888931868e-6
allele num: 118918
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000446144
  ensembl transcript: ENST00000537007
  gene symbol: MRPL48
  hgvsc: ENST00000537007.1:c.-237T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  hgvsc: ENST00000398483.3:c.-446T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  hgvsc: ENST00000544819.1:c.-31T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  hgvsc: ENST00000535277.1:c.-484T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  hgvsc: ENST00000508278.2:c.-31T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  hgvsc: ENST00000544140.1:c.-31T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  hgvsc: ENST00000310614.7:c.-31T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  hgvsc: ENST00000497094.2:c.-449T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  hgvsc: ENST00000411840.2:c.-581T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  hgvsc: ENST00000540162.1:c.-31T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  hgvsc: ENST00000542303.1:c.-31T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  hgvsc: ENST00000535529.1:c.-143T>C
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17142
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ

11-73498989-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73498989
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73498989
    reference: chr 11
allele count: 1
allele frequency: 8.405480373203328e-6
allele num: 118970
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  hgvsc: ENST00000398483.3:c.-443A>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  hgvsc: ENST00000535277.1:c.-481A>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  hgvsc: ENST00000411840.2:c.-578A>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  hgvsc: ENST00000544140.1:c.-28A>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  hgvsc: ENST00000508278.2:c.-28A>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  hgvsc: ENST00000310614.7:c.-28A>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  hgvsc: ENST00000544819.1:c.-28A>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  hgvsc: ENST00000540162.1:c.-28A>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  hgvsc: ENST00000535529.1:c.-140A>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000446144
  ensembl transcript: ENST00000537007
  gene symbol: MRPL48
  hgvsc: ENST00000537007.1:c.-234A>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  hgvsc: ENST00000497094.2:c.-446A>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  hgvsc: ENST00000542303.1:c.-28A>G
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5910
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

11-73498991-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73498991
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73498991
    reference: chr 11
allele count: 1
allele frequency: 8.402655239055541e-6
allele num: 119010
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  hgvsc: ENST00000535529.1:c.-138A>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  hgvsc: ENST00000540162.1:c.-26A>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  hgvsc: ENST00000535277.1:c.-479A>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  hgvsc: ENST00000542303.1:c.-26A>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  hgvsc: ENST00000508278.2:c.-26A>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  hgvsc: ENST00000544819.1:c.-26A>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  hgvsc: ENST00000310614.7:c.-26A>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  hgvsc: ENST00000411840.2:c.-576A>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  hgvsc: ENST00000497094.2:c.-444A>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  hgvsc: ENST00000398483.3:c.-441A>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  hgvsc: ENST00000544140.1:c.-26A>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000446144
  ensembl transcript: ENST00000537007
  gene symbol: MRPL48
  hgvsc: ENST00000537007.1:c.-232A>T
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14066
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

11-73498994-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73498994
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73498994
    reference: chr 11
allele count: 1
allele frequency: 8.400114241553686e-6
allele num: 119046
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  hgvsc: ENST00000544819.1:c.-23T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  hgvsc: ENST00000544140.1:c.-23T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  hgvsc: ENST00000535277.1:c.-476T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  hgvsc: ENST00000535529.1:c.-135T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  hgvsc: ENST00000540162.1:c.-23T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  hgvsc: ENST00000508278.2:c.-23T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  hgvsc: ENST00000398483.3:c.-438T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  hgvsc: ENST00000497094.2:c.-441T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  hgvsc: ENST00000542303.1:c.-23T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  hgvsc: ENST00000411840.2:c.-573T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  hgvsc: ENST00000310614.7:c.-23T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000446144
  ensembl transcript: ENST00000537007
  gene symbol: MRPL48
  hgvsc: ENST00000537007.1:c.-229T>C
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3454
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10036
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14275
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

11-73499000-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73499000
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73499000
    reference: chr 11
allele count: 2
allele frequency: 1.679345726904798e-5
allele num: 119094
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  hgvsc: ENST00000535529.1:c.-129C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  hgvsc: ENST00000544140.1:c.-17C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  hgvsc: ENST00000508278.2:c.-17C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  hgvsc: ENST00000411840.2:c.-567C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000446144
  ensembl transcript: ENST00000537007
  gene symbol: MRPL48
  hgvsc: ENST00000537007.1:c.-223C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  hgvsc: ENST00000535277.1:c.-470C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  hgvsc: ENST00000398483.3:c.-432C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  hgvsc: ENST00000497094.2:c.-435C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  hgvsc: ENST00000540162.1:c.-17C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  hgvsc: ENST00000310614.7:c.-17C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  hgvsc: ENST00000544819.1:c.-17C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  hgvsc: ENST00000542303.1:c.-17C>T
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

11-73499003-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73499003
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73499003
    reference: chr 11
allele count: 1
allele frequency: 8.391232839928842e-6
allele num: 119172
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  hgvsc: ENST00000540162.1:c.-14C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  hgvsc: ENST00000544140.1:c.-14C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  hgvsc: ENST00000411840.2:c.-564C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442878
  ensembl transcript: ENST00000543058
  gene symbol: MRPL48
  hgvsc: ENST00000543058.1:c.-14C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  hgvsc: ENST00000508278.2:c.-14C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  hgvsc: ENST00000497094.2:c.-432C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  hgvsc: ENST00000398483.3:c.-429C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  hgvsc: ENST00000535529.1:c.-126C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000446144
  ensembl transcript: ENST00000537007
  gene symbol: MRPL48
  hgvsc: ENST00000537007.1:c.-220C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  hgvsc: ENST00000544819.1:c.-14C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  hgvsc: ENST00000542303.1:c.-14C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  hgvsc: ENST00000310614.7:c.-14C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  hgvsc: ENST00000535277.1:c.-467C>T
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10271
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14808
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

11-73499004-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73499004
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73499004
    reference: chr 11
allele count: 1
allele frequency: 8.39066957543212e-6
allele num: 119180
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  hgvsc: ENST00000535277.1:c.-466G>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  hgvsc: ENST00000398483.3:c.-428G>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  hgvsc: ENST00000535529.1:c.-125G>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  hgvsc: ENST00000497094.2:c.-431G>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  hgvsc: ENST00000544819.1:c.-13G>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  hgvsc: ENST00000544140.1:c.-13G>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  hgvsc: ENST00000508278.2:c.-13G>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  hgvsc: ENST00000310614.7:c.-13G>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442878
  ensembl transcript: ENST00000543058
  gene symbol: MRPL48
  hgvsc: ENST00000543058.1:c.-13G>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000446144
  ensembl transcript: ENST00000537007
  gene symbol: MRPL48
  hgvsc: ENST00000537007.1:c.-219G>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  hgvsc: ENST00000540162.1:c.-13G>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  hgvsc: ENST00000542303.1:c.-13G>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  hgvsc: ENST00000411840.2:c.-563G>T
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14877
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5967
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17480
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS

11-73499011-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73499011
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73499011
    reference: chr 11
allele count: 1
allele frequency: 8.380122349786308e-6
allele num: 119330
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000446144
  ensembl transcript: ENST00000537007
  gene symbol: MRPL48
  hgvsc: ENST00000537007.1:c.-212C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  hgvsc: ENST00000544819.1:c.-6C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  hgvsc: ENST00000411840.2:c.-556C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  hgvsc: ENST00000535529.1:c.-118C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  hgvsc: ENST00000542303.1:c.-6C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  hgvsc: ENST00000508278.2:c.-6C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  hgvsc: ENST00000497094.2:c.-424C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442878
  ensembl transcript: ENST00000543058
  gene symbol: MRPL48
  hgvsc: ENST00000543058.1:c.-6C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  hgvsc: ENST00000398483.3:c.-421C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  hgvsc: ENST00000544140.1:c.-6C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  hgvsc: ENST00000540162.1:c.-6C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  hgvsc: ENST00000535277.1:c.-459C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  hgvsc: ENST00000310614.7:c.-6C>G
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3480
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

11-73499022-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73499022
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73499022
    reference: chr 11
allele count: 1
allele frequency: 8.375910880308233e-6
allele num: 119390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  hgvsc: ENST00000535277.1:c.-448C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  hgvsc: ENST00000497094.2:c.-413C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  hgvsc: ENST00000310614.7:c.6C>G
  hgvsp: ENSP00000308717.7:p.Ser2Arg
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  hgvsc: ENST00000398483.3:c.-410C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  hgvsc: ENST00000508278.2:c.6C>G
  hgvsp: ENSP00000445111.1:p.Ser2Arg
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  hgvsc: ENST00000544140.1:c.6C>G
  hgvsp: ENSP00000444441.1:p.Ser2Arg
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000446144
  ensembl transcript: ENST00000537007
  gene symbol: MRPL48
  hgvsc: ENST00000537007.1:c.-201C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  hgvsc: ENST00000544819.1:c.6C>G
  hgvsp: ENSP00000442146.1:p.Ser2Arg
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  hgvsc: ENST00000540162.1:c.6C>G
  hgvsp: ENSP00000441925.1:p.Ser2Arg
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442878
  ensembl transcript: ENST00000543058
  gene symbol: MRPL48
  hgvsc: ENST00000543058.1:c.6C>G
  hgvsp: ENSP00000442878.1:p.Ser2Arg
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  hgvsc: ENST00000542303.1:c.6C>G
  hgvsp: ENSP00000443685.1:p.Ser2Arg
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  hgvsc: ENST00000411840.2:c.-545C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  hgvsc: ENST00000535529.1:c.-107C>G
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser2Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

11-73499024-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73499024
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73499024
    reference: chr 11
allele count: 2
allele frequency: 1.67467720596855e-5
allele num: 119426
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  hgvsc: ENST00000544140.1:c.8G>T
  hgvsp: ENSP00000444441.1:p.Gly3Val
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  hgvsc: ENST00000497094.2:c.-411G>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  hgvsc: ENST00000398483.3:c.-408G>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  hgvsc: ENST00000310614.7:c.8G>T
  hgvsp: ENSP00000308717.7:p.Gly3Val
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  hgvsc: ENST00000542303.1:c.8G>T
  hgvsp: ENSP00000443685.1:p.Gly3Val
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  hgvsc: ENST00000544819.1:c.8G>T
  hgvsp: ENSP00000442146.1:p.Gly3Val
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  hgvsc: ENST00000535277.1:c.-446G>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000446144
  ensembl transcript: ENST00000537007
  gene symbol: MRPL48
  hgvsc: ENST00000537007.1:c.-199G>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  hgvsc: ENST00000540162.1:c.8G>T
  hgvsp: ENSP00000441925.1:p.Gly3Val
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442878
  ensembl transcript: ENST00000543058
  gene symbol: MRPL48
  hgvsc: ENST00000543058.1:c.8G>T
  hgvsp: ENSP00000442878.1:p.Gly3Val
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  hgvsc: ENST00000508278.2:c.8G>T
  hgvsp: ENSP00000445111.1:p.Gly3Val
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  hgvsc: ENST00000535529.1:c.-105G>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  hgvsc: ENST00000411840.2:c.-543G>T
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10626
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly3Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/11-73499027-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73499027
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73499027
    reference: chr 11
allele count: 2
allele frequency: 1.674284661878213e-5
allele num: 119454
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000446144
  ensembl transcript: ENST00000537007
  gene symbol: MRPL48
  hgvsc: ENST00000537007.1:c.-196C>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  hgvsc: ENST00000310614.7:c.11C>A
  hgvsp: ENSP00000308717.7:p.Thr4Asn
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  hgvsc: ENST00000535529.1:c.-102C>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  hgvsc: ENST00000508278.2:c.11C>A
  hgvsp: ENSP00000445111.1:p.Thr4Asn
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  hgvsc: ENST00000540162.1:c.11C>A
  hgvsp: ENSP00000441925.1:p.Thr4Asn
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  hgvsc: ENST00000411840.2:c.-540C>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  hgvsc: ENST00000497094.2:c.-408C>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  hgvsc: ENST00000535277.1:c.-443C>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  hgvsc: ENST00000542303.1:c.11C>A
  hgvsp: ENSP00000443685.1:p.Thr4Asn
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442878
  ensembl transcript: ENST00000543058
  gene symbol: MRPL48
  hgvsc: ENST00000543058.1:c.11C>A
  hgvsp: ENSP00000442878.1:p.Thr4Asn
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  hgvsc: ENST00000544140.1:c.11C>A
  hgvsp: ENSP00000444441.1:p.Thr4Asn
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  hgvsc: ENST00000544819.1:c.11C>A
  hgvsp: ENSP00000442146.1:p.Thr4Asn
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  hgvsc: ENST00000398483.3:c.-405C>A
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15548
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6019
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr4Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

11-73499032-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73499032
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73499032
    reference: chr 11
allele count: 1
allele frequency: 8.371283150281276e-6
allele num: 119456
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  hgvsc: ENST00000411840.2:c.-535G>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  hgvsc: ENST00000540162.1:c.16G>T
  hgvsp: ENSP00000441925.1:p.Glu6Ter
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  hgvsc: ENST00000544819.1:c.16G>T
  hgvsp: ENSP00000442146.1:p.Glu6Ter
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  hgvsc: ENST00000508278.2:c.16G>T
  hgvsp: ENSP00000445111.1:p.Glu6Ter
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  hgvsc: ENST00000535529.1:c.-97G>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  hgvsc: ENST00000535277.1:c.-438G>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000446144
  ensembl transcript: ENST00000537007
  gene symbol: MRPL48
  hgvsc: ENST00000537007.1:c.-191G>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  hgvsc: ENST00000310614.7:c.16G>T
  hgvsp: ENSP00000308717.7:p.Glu6Ter
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442878
  ensembl transcript: ENST00000543058
  gene symbol: MRPL48
  hgvsc: ENST00000543058.1:c.16G>T
  hgvsp: ENSP00000442878.1:p.Glu6Ter
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  hgvsc: ENST00000542303.1:c.16G>T
  hgvsp: ENSP00000443685.1:p.Glu6Ter
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  hgvsc: ENST00000544140.1:c.16G>T
  hgvsp: ENSP00000444441.1:p.Glu6Ter
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  hgvsc: ENST00000398483.3:c.-400G>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  hgvsc: ENST00000497094.2:c.-403G>T
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10706
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17217
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu6Ter
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

11-73499032-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73499032
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73499031
    reference: chr 11
allele count: 3
allele frequency: 2.511384945084382e-5
allele num: 119456
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  hgvsc: ENST00000411840.2:c.-531delA
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  hgvsc: ENST00000542303.1:c.20delA
  hgvsp: ENSP00000443685.1:p.Lys7ArgfsTer5
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  hgvsc: ENST00000540162.1:c.20delA
  hgvsp: ENSP00000441925.1:p.Lys7ArgfsTer5
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  hgvsc: ENST00000544140.1:c.20delA
  hgvsp: ENSP00000444441.1:p.Lys7ArgfsTer5
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  hgvsc: ENST00000310614.7:c.20delA
  hgvsp: ENSP00000308717.7:p.Lys7ArgfsTer5
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  hgvsc: ENST00000398483.3:c.-396delA
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  hgvsc: ENST00000508278.2:c.20delA
  hgvsp: ENSP00000445111.1:p.Lys7ArgfsTer5
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000446144
  ensembl transcript: ENST00000537007
  gene symbol: MRPL48
  hgvsc: ENST00000537007.1:c.-187delA
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  hgvsc: ENST00000535277.1:c.-434delA
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442878
  ensembl transcript: ENST00000543058
  gene symbol: MRPL48
  hgvsc: ENST00000543058.1:c.20delA
  hgvsp: ENSP00000442878.1:p.Lys7ArgfsTer5
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  hgvsc: ENST00000535529.1:c.-93delA
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  hgvsc: ENST00000544819.1:c.20delA
  hgvsp: ENSP00000442146.1:p.Lys7ArgfsTer5
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  hgvsc: ENST00000497094.2:c.-399delA
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys7ArgfsTer5
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: GA
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

11-73499035-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73499035
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73499035
    reference: chr 11
allele count: 1
allele frequency: 8.372404554588077e-6
allele num: 119440
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  hgvsc: ENST00000544140.1:c.19A>G
  hgvsp: ENSP00000444441.1:p.Lys7Glu
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442878
  ensembl transcript: ENST00000543058
  gene symbol: MRPL48
  hgvsc: ENST00000543058.1:c.19A>G
  hgvsp: ENSP00000442878.1:p.Lys7Glu
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  hgvsc: ENST00000535277.1:c.-435A>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000446144
  ensembl transcript: ENST00000537007
  gene symbol: MRPL48
  hgvsc: ENST00000537007.1:c.-188A>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  hgvsc: ENST00000540162.1:c.19A>G
  hgvsp: ENSP00000441925.1:p.Lys7Glu
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  hgvsc: ENST00000508278.2:c.19A>G
  hgvsp: ENSP00000445111.1:p.Lys7Glu
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  hgvsc: ENST00000310614.7:c.19A>G
  hgvsp: ENSP00000308717.7:p.Lys7Glu
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  hgvsc: ENST00000398483.3:c.-397A>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  hgvsc: ENST00000411840.2:c.-532A>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  hgvsc: ENST00000535529.1:c.-94A>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  hgvsc: ENST00000497094.2:c.-400A>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  hgvsc: ENST00000544819.1:c.19A>G
  hgvsp: ENSP00000442146.1:p.Lys7Glu
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  hgvsc: ENST00000542303.1:c.19A>G
  hgvsp: ENSP00000443685.1:p.Lys7Glu
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys7Glu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

11-73499037-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73499037
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73499037
    reference: chr 11
allele count: 2
allele frequency: 1.674172540221995e-5
allele num: 119462
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442878
  ensembl transcript: ENST00000543058
  gene symbol: MRPL48
  hgvsc: ENST00000543058.1:c.21G>A
  hgvsp: ENST00000543058.1:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000446144
  ensembl transcript: ENST00000537007
  gene symbol: MRPL48
  hgvsc: ENST00000537007.1:c.-186G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  hgvsc: ENST00000544819.1:c.21G>A
  hgvsp: ENST00000544819.1:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  hgvsc: ENST00000497094.2:c.-398G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  hgvsc: ENST00000398483.3:c.-395G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  hgvsc: ENST00000544140.1:c.21G>A
  hgvsp: ENST00000544140.1:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  hgvsc: ENST00000411840.2:c.-530G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  hgvsc: ENST00000542303.1:c.21G>A
  hgvsp: ENST00000542303.1:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  hgvsc: ENST00000508278.2:c.21G>A
  hgvsp: ENST00000508278.2:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  hgvsc: ENST00000535529.1:c.-92G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  hgvsc: ENST00000535277.1:c.-433G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  hgvsc: ENST00000540162.1:c.21G>A
  hgvsp: ENST00000540162.1:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  hgvsc: ENST00000310614.7:c.21G>A
  hgvsp: ENST00000310614.7:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.21G>A
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/11-73499042-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73499042
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73499042
    reference: chr 11
allele count: 3
allele frequency: 2.513699663164245e-5
allele num: 119346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  hgvsc: ENST00000508278.2:c.21+5C>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442878
  ensembl transcript: ENST00000543058
  gene symbol: MRPL48
  hgvsc: ENST00000543058.1:c.21+5C>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  hgvsc: ENST00000411840.2:c.-530+5C>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  hgvsc: ENST00000497094.2:c.-398+5C>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  hgvsc: ENST00000310614.7:c.21+5C>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  hgvsc: ENST00000540162.1:c.21+5C>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  hgvsc: ENST00000398483.3:c.-395+5C>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  hgvsc: ENST00000544140.1:c.21+5C>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  hgvsc: ENST00000535529.1:c.-92+5C>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  hgvsc: ENST00000535277.1:c.-433+5C>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  hgvsc: ENST00000544819.1:c.21+5C>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000446144
  ensembl transcript: ENST00000537007
  gene symbol: MRPL48
  hgvsc: ENST00000537007.1:c.-186+5C>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  hgvsc: ENST00000542303.1:c.21+5C>A
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15663
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10743
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.21+5C>A
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

11-73499043-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73499043
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73499043
    reference: chr 11
allele count: 7
allele frequency: 5.861272063502696e-5
allele num: 119428
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442878
  ensembl transcript: ENST00000543058
  gene symbol: MRPL48
  hgvsc: ENST00000543058.1:c.21+6G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  hgvsc: ENST00000540162.1:c.21+6G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  hgvsc: ENST00000535277.1:c.-433+6G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  hgvsc: ENST00000508278.2:c.21+6G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  hgvsc: ENST00000535529.1:c.-92+6G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  hgvsc: ENST00000398483.3:c.-395+6G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  hgvsc: ENST00000411840.2:c.-530+6G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  hgvsc: ENST00000542303.1:c.21+6G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  hgvsc: ENST00000497094.2:c.-398+6G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000446144
  ensembl transcript: ENST00000537007
  gene symbol: MRPL48
  hgvsc: ENST00000537007.1:c.-186+6G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  hgvsc: ENST00000544819.1:c.21+6G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  hgvsc: ENST00000310614.7:c.21+6G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  hgvsc: ENST00000544140.1:c.21+6G>A
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10770
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.21+6G>A
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

11-73499044-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73499044
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73499044
    reference: chr 11
allele count: 1
allele frequency: 8.386588168201411e-6
allele num: 119238
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  hgvsc: ENST00000540162.1:c.21+7T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  hgvsc: ENST00000497094.2:c.-398+7T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  hgvsc: ENST00000310614.7:c.21+7T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  hgvsc: ENST00000411840.2:c.-530+7T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  hgvsc: ENST00000544140.1:c.21+7T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  hgvsc: ENST00000535529.1:c.-92+7T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  hgvsc: ENST00000398483.3:c.-395+7T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  hgvsc: ENST00000535277.1:c.-433+7T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442878
  ensembl transcript: ENST00000543058
  gene symbol: MRPL48
  hgvsc: ENST00000543058.1:c.21+7T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  hgvsc: ENST00000544819.1:c.21+7T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  hgvsc: ENST00000508278.2:c.21+7T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000446144
  ensembl transcript: ENST00000537007
  gene symbol: MRPL48
  hgvsc: ENST00000537007.1:c.-186+7T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  hgvsc: ENST00000542303.1:c.21+7T>C
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15648
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.21+7T>C
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-73499046-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73499046
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73499046
    reference: chr 11
allele count: 1
allele frequency: 8.392218734789103e-6
allele num: 119158
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  hgvsc: ENST00000540162.1:c.21+9G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  hgvsc: ENST00000411840.2:c.-530+9G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  hgvsc: ENST00000497094.2:c.-398+9G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  hgvsc: ENST00000508278.2:c.21+9G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  hgvsc: ENST00000535277.1:c.-433+9G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  hgvsc: ENST00000310614.7:c.21+9G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  hgvsc: ENST00000535529.1:c.-92+9G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  hgvsc: ENST00000398483.3:c.-395+9G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  hgvsc: ENST00000544819.1:c.21+9G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  hgvsc: ENST00000542303.1:c.21+9G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000446144
  ensembl transcript: ENST00000537007
  gene symbol: MRPL48
  hgvsc: ENST00000537007.1:c.-186+9G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  hgvsc: ENST00000544140.1:c.21+9G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442878
  ensembl transcript: ENST00000543058
  gene symbol: MRPL48
  hgvsc: ENST00000543058.1:c.21+9G>C
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

http://identifiers.org/exac.variant/11-73499047-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73499047
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73499047
    reference: chr 11
allele count: 1
allele frequency: 8.401243384020834e-6
allele num: 119030
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  hgvsc: ENST00000540162.1:c.21+10A>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  hgvsc: ENST00000497094.2:c.-398+10A>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  hgvsc: ENST00000544140.1:c.21+10A>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  hgvsc: ENST00000535529.1:c.-92+10A>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  hgvsc: ENST00000398483.3:c.-395+10A>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  hgvsc: ENST00000535277.1:c.-433+10A>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442878
  ensembl transcript: ENST00000543058
  gene symbol: MRPL48
  hgvsc: ENST00000543058.1:c.21+10A>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  hgvsc: ENST00000411840.2:c.-530+10A>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  hgvsc: ENST00000508278.2:c.21+10A>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000446144
  ensembl transcript: ENST00000537007
  gene symbol: MRPL48
  hgvsc: ENST00000537007.1:c.-186+10A>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  hgvsc: ENST00000544819.1:c.21+10A>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  hgvsc: ENST00000542303.1:c.21+10A>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  hgvsc: ENST00000310614.7:c.21+10A>C
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

11-73499049-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73499049
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73499049
    reference: chr 11
allele count: 1
allele frequency: 8.376472164982996e-6
allele num: 119382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  hgvsc: ENST00000540162.1:c.21+12T>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  hgvsc: ENST00000535529.1:c.-92+12T>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000446144
  ensembl transcript: ENST00000537007
  gene symbol: MRPL48
  hgvsc: ENST00000537007.1:c.-186+12T>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  hgvsc: ENST00000544819.1:c.21+12T>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  hgvsc: ENST00000310614.7:c.21+12T>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  hgvsc: ENST00000497094.2:c.-398+12T>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  hgvsc: ENST00000508278.2:c.21+12T>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  hgvsc: ENST00000411840.2:c.-530+12T>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  hgvsc: ENST00000544140.1:c.21+12T>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  hgvsc: ENST00000535277.1:c.-433+12T>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  hgvsc: ENST00000398483.3:c.-395+12T>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442878
  ensembl transcript: ENST00000543058
  gene symbol: MRPL48
  hgvsc: ENST00000543058.1:c.21+12T>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  hgvsc: ENST00000542303.1:c.21+12T>A
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6099
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

11-73499050-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73499050
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73499050
    reference: chr 11
allele count: 1
allele frequency: 8.458376330079678e-6
allele num: 118226
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  hgvsc: ENST00000497094.2:c.-398+13C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000446144
  ensembl transcript: ENST00000537007
  gene symbol: MRPL48
  hgvsc: ENST00000537007.1:c.-186+13C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  hgvsc: ENST00000535529.1:c.-92+13C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  hgvsc: ENST00000544140.1:c.21+13C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  hgvsc: ENST00000310614.7:c.21+13C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442878
  ensembl transcript: ENST00000543058
  gene symbol: MRPL48
  hgvsc: ENST00000543058.1:c.21+13C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  hgvsc: ENST00000544819.1:c.21+13C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  hgvsc: ENST00000508278.2:c.21+13C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  hgvsc: ENST00000542303.1:c.21+13C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  hgvsc: ENST00000535277.1:c.-433+13C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  hgvsc: ENST00000411840.2:c.-530+13C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  hgvsc: ENST00000398483.3:c.-395+13C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  hgvsc: ENST00000540162.1:c.21+13C>G
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10831
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15264
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

11-73499051-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73499051
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73499051
    reference: chr 11
allele count: 1
allele frequency: 8.488531993277082e-6
allele num: 117806
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  hgvsc: ENST00000508278.2:c.21+14C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  hgvsc: ENST00000411840.2:c.-530+14C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  hgvsc: ENST00000542303.1:c.21+14C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000446144
  ensembl transcript: ENST00000537007
  gene symbol: MRPL48
  hgvsc: ENST00000537007.1:c.-186+14C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  hgvsc: ENST00000497094.2:c.-398+14C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442878
  ensembl transcript: ENST00000543058
  gene symbol: MRPL48
  hgvsc: ENST00000543058.1:c.21+14C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  hgvsc: ENST00000540162.1:c.21+14C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  hgvsc: ENST00000544140.1:c.21+14C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  hgvsc: ENST00000398483.3:c.-395+14C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  hgvsc: ENST00000535529.1:c.-92+14C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  hgvsc: ENST00000535277.1:c.-433+14C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  hgvsc: ENST00000310614.7:c.21+14C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  hgvsc: ENST00000544819.1:c.21+14C>T
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3763
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

11-73499055-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73499055
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73499055
    reference: chr 11
allele count: 1
allele frequency: 8.609408361457401e-6
allele num: 116152
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000446144
  ensembl transcript: ENST00000537007
  gene symbol: MRPL48
  hgvsc: ENST00000537007.1:c.-186+18C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  hgvsc: ENST00000544140.1:c.21+18C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  hgvsc: ENST00000540162.1:c.21+18C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  hgvsc: ENST00000310614.7:c.21+18C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  hgvsc: ENST00000398483.3:c.-395+18C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442878
  ensembl transcript: ENST00000543058
  gene symbol: MRPL48
  hgvsc: ENST00000543058.1:c.21+18C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  hgvsc: ENST00000544819.1:c.21+18C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  hgvsc: ENST00000508278.2:c.21+18C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  hgvsc: ENST00000535277.1:c.-433+18C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  hgvsc: ENST00000535529.1:c.-92+18C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  hgvsc: ENST00000411840.2:c.-530+18C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  hgvsc: ENST00000542303.1:c.21+18C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  hgvsc: ENST00000497094.2:c.-398+18C>G
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

11-73499057-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73499057
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73499057
    reference: chr 11
allele count: 1
allele frequency: 8.780093771401479e-6
allele num: 113894
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  hgvsc: ENST00000411840.2:c.-530+20C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  hgvsc: ENST00000542303.1:c.21+20C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  hgvsc: ENST00000544140.1:c.21+20C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442878
  ensembl transcript: ENST00000543058
  gene symbol: MRPL48
  hgvsc: ENST00000543058.1:c.21+20C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  hgvsc: ENST00000497094.2:c.-398+20C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  hgvsc: ENST00000398483.3:c.-395+20C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000446144
  ensembl transcript: ENST00000537007
  gene symbol: MRPL48
  hgvsc: ENST00000537007.1:c.-186+20C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  hgvsc: ENST00000540162.1:c.21+20C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  hgvsc: ENST00000535277.1:c.-433+20C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  hgvsc: ENST00000544819.1:c.21+20C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  hgvsc: ENST00000508278.2:c.21+20C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  hgvsc: ENST00000535529.1:c.-92+20C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  hgvsc: ENST00000310614.7:c.21+20C>T
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6212
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

11-73499058-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73499058
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73499058
    reference: chr 11
allele count: 1
allele frequency: 8.398844319021702e-6
allele num: 119064
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  hgvsc: ENST00000310614.7:c.21+21G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442878
  ensembl transcript: ENST00000543058
  gene symbol: MRPL48
  hgvsc: ENST00000543058.1:c.21+21G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  hgvsc: ENST00000535529.1:c.-92+21G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  hgvsc: ENST00000411840.2:c.-530+21G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  hgvsc: ENST00000535277.1:c.-433+21G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000446144
  ensembl transcript: ENST00000537007
  gene symbol: MRPL48
  hgvsc: ENST00000537007.1:c.-186+21G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  hgvsc: ENST00000544140.1:c.21+21G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  hgvsc: ENST00000508278.2:c.21+21G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  hgvsc: ENST00000497094.2:c.-398+21G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  hgvsc: ENST00000398483.3:c.-395+21G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  hgvsc: ENST00000540162.1:c.21+21G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  hgvsc: ENST00000542303.1:c.21+21G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  hgvsc: ENST00000544819.1:c.21+21G>A
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6251
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13980
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

11-73499058-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73499058
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73499058
    reference: chr 11
allele count: 1
allele frequency: 8.398844319021702e-6
allele num: 119064
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  hgvsc: ENST00000411840.2:c.-530+21G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  hgvsc: ENST00000497094.2:c.-398+21G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  hgvsc: ENST00000542303.1:c.21+21G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  hgvsc: ENST00000544140.1:c.21+21G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  hgvsc: ENST00000540162.1:c.21+21G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  hgvsc: ENST00000310614.7:c.21+21G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  hgvsc: ENST00000535277.1:c.-433+21G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  hgvsc: ENST00000398483.3:c.-395+21G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  hgvsc: ENST00000508278.2:c.21+21G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000446144
  ensembl transcript: ENST00000537007
  gene symbol: MRPL48
  hgvsc: ENST00000537007.1:c.-186+21G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  hgvsc: ENST00000544819.1:c.21+21G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442878
  ensembl transcript: ENST00000543058
  gene symbol: MRPL48
  hgvsc: ENST00000543058.1:c.21+21G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  hgvsc: ENST00000535529.1:c.-92+21G>C
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14337
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-73499064-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73499064
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73499064
    reference: chr 11
allele count: 1
allele frequency: 9.102162673851307e-6
allele num: 109864
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  hgvsc: ENST00000542303.1:c.21+27C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  hgvsc: ENST00000544140.1:c.21+27C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  hgvsc: ENST00000535277.1:c.-433+27C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  hgvsc: ENST00000398483.3:c.-395+27C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  hgvsc: ENST00000540162.1:c.21+27C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  hgvsc: ENST00000411840.2:c.-530+27C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  hgvsc: ENST00000535529.1:c.-92+27C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000446144
  ensembl transcript: ENST00000537007
  gene symbol: MRPL48
  hgvsc: ENST00000537007.1:c.-186+27C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  hgvsc: ENST00000508278.2:c.21+27C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  hgvsc: ENST00000310614.7:c.21+27C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442878
  ensembl transcript: ENST00000543058
  gene symbol: MRPL48
  hgvsc: ENST00000543058.1:c.21+27C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  hgvsc: ENST00000544819.1:c.21+27C>G
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  hgvsc: ENST00000497094.2:c.-398+27C>G
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10220
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-73499066-C-CGGGGAGATAGCGGACGGTGCAGAGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73499066
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73499091
    reference: chr 11
allele count: 1
allele frequency: 9.006899284852197e-6
allele num: 111026
alternate allele: CGGGGAGATAGCGGACGGTGCAGAGA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442878
  ensembl transcript: ENST00000543058
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000446144
  ensembl transcript: ENST00000537007
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9950
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD

11-73499066-C-CGGGGAGATGGCAGACGGTGCAGAGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73499066
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73499091
    reference: chr 11
allele count: 1
allele frequency: 9.006899284852197e-6
allele num: 111026
alternate allele: CGGGGAGATGGCAGACGGTGCAGAGA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000446144
  ensembl transcript: ENST00000537007
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442878
  ensembl transcript: ENST00000543058
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12725
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9950
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum

11-73499066-C-CGGGGAGATGGCGGACGGTGCAGAGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73499066
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73499091
    reference: chr 11
allele count: 1892
allele frequency: 1.704105344694036e-2
allele num: 111026
alternate allele: CGGGGAGATGGCGGACGGTGCAGAGA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000446144
  ensembl transcript: ENST00000537007
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442878
  ensembl transcript: ENST00000543058
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9950
  bin: 3.25e1
  variant carriers: 183
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12725
  bin: 2.25e1
  variant carriers: 402
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 4.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 1.25e1
  variant carriers: 237
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 7.5e0
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 1.75e1
  variant carriers: 413
genotype depth: GenotypeDepth
  all individuals: 13534
  bin: 2.75e1
  variant carriers: 286
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 5.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
num of homozygotes: 237
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

11-73499066-C-CGGGGAGATGGCGGACGTTGCAGAGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73499066
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73499091
    reference: chr 11
allele count: 1
allele frequency: 9.006899284852197e-6
allele num: 111026
alternate allele: CGGGGAGATGGCGGACGTTGCAGAGA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442878
  ensembl transcript: ENST00000543058
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000446144
  ensembl transcript: ENST00000537007
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 13534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP

11-73499066-C-CGGGGAGATGGTGGACGGTGCAGAGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73499066
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73499091
    reference: chr 11
allele count: 1
allele frequency: 9.006899284852197e-6
allele num: 111026
alternate allele: CGGGGAGATGGTGGACGGTGCAGAGA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442878
  ensembl transcript: ENST00000543058
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000446144
  ensembl transcript: ENST00000537007
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 13534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9950
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6307
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ

11-73499066-CGGGGAGATGGCGGACGGTGCAGAGA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73499066
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73499041
    reference: chr 11
allele count: 5214
allele frequency: 4.696197287121935e-2
allele num: 111026
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000446144
  ensembl transcript: ENST00000537007
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442878
  ensembl transcript: ENST00000543058
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 12725
  bin: 2.25e1
  variant carriers: 672
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 5.75e1
  variant carriers: 131
genotype depth: GenotypeDepth
  all individuals: 6307
  bin: 3.75e1
  variant carriers: 686
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9950
  bin: 3.25e1
  variant carriers: 789
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 7.5e0
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 13534
  bin: 2.75e1
  variant carriers: 835
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 4.75e1
  variant carriers: 315
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 4.25e1
  variant carriers: 496
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 1.75e1
  variant carriers: 482
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 5.25e1
  variant carriers: 227
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.25e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 1.25e1
  variant carriers: 237
genotype quality: GenotypeQuality
num of homozygotes: 119
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: CGGGGAGATGGCGGACGGTGCAGAGA
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

11-73499067-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73499067
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73499067
    reference: chr 11
allele count: 1
allele frequency: 9.213532837031031e-6
allele num: 108536
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  hgvsc: ENST00000398483.3:c.-395+30G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  hgvsc: ENST00000542303.1:c.21+30G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  hgvsc: ENST00000544140.1:c.21+30G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  hgvsc: ENST00000544819.1:c.21+30G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  hgvsc: ENST00000411840.2:c.-530+30G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  hgvsc: ENST00000508278.2:c.21+30G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  hgvsc: ENST00000535277.1:c.-433+30G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  hgvsc: ENST00000535529.1:c.-92+30G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  hgvsc: ENST00000540162.1:c.21+30G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  hgvsc: ENST00000497094.2:c.-398+30G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442878
  ensembl transcript: ENST00000543058
  gene symbol: MRPL48
  hgvsc: ENST00000543058.1:c.21+30G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  hgvsc: ENST00000310614.7:c.21+30G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000446144
  ensembl transcript: ENST00000537007
  gene symbol: MRPL48
  hgvsc: ENST00000537007.1:c.-186+30G>C
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11869
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

11-73499068-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73499068
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73499068
    reference: chr 11
allele count: 6
allele frequency: 5.515516987792322e-5
allele num: 108784
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000446144
  ensembl transcript: ENST00000537007
  gene symbol: MRPL48
  hgvsc: ENST00000537007.1:c.-186+31G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  hgvsc: ENST00000411840.2:c.-530+31G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  hgvsc: ENST00000540162.1:c.21+31G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  hgvsc: ENST00000497094.2:c.-398+31G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  hgvsc: ENST00000535277.1:c.-433+31G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  hgvsc: ENST00000544819.1:c.21+31G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  hgvsc: ENST00000542303.1:c.21+31G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442878
  ensembl transcript: ENST00000543058
  gene symbol: MRPL48
  hgvsc: ENST00000543058.1:c.21+31G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  hgvsc: ENST00000544140.1:c.21+31G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  hgvsc: ENST00000508278.2:c.21+31G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  hgvsc: ENST00000535529.1:c.-92+31G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  hgvsc: ENST00000398483.3:c.-395+31G>A
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  hgvsc: ENST00000310614.7:c.21+31G>A
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9611
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11582
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

11-73499079-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73499079
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73499079
    reference: chr 11
allele count: 1
allele frequency: 9.208103130755064e-6
allele num: 108600
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  hgvsc: ENST00000544819.1:c.21+42G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  hgvsc: ENST00000508278.2:c.21+42G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  hgvsc: ENST00000398483.3:c.-395+42G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  hgvsc: ENST00000535529.1:c.-92+42G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  hgvsc: ENST00000411840.2:c.-530+42G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  hgvsc: ENST00000544140.1:c.21+42G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  hgvsc: ENST00000542303.1:c.21+42G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  hgvsc: ENST00000540162.1:c.21+42G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442878
  ensembl transcript: ENST00000543058
  gene symbol: MRPL48
  hgvsc: ENST00000543058.1:c.21+42G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  hgvsc: ENST00000497094.2:c.-398+42G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000446144
  ensembl transcript: ENST00000537007
  gene symbol: MRPL48
  hgvsc: ENST00000537007.1:c.-186+42G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  hgvsc: ENST00000310614.7:c.21+42G>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  hgvsc: ENST00000535277.1:c.-433+42G>C
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12319
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5942
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11513
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

11-73499081-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73499081
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73499081
    reference: chr 11
allele count: 1
allele frequency: 9.239070179977087e-6
allele num: 108236
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  hgvsc: ENST00000542303.1:c.21+44C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  hgvsc: ENST00000497094.2:c.-398+44C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  hgvsc: ENST00000398483.3:c.-395+44C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  hgvsc: ENST00000544140.1:c.21+44C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  hgvsc: ENST00000310614.7:c.21+44C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  hgvsc: ENST00000540162.1:c.21+44C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  hgvsc: ENST00000411840.2:c.-530+44C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  hgvsc: ENST00000535277.1:c.-433+44C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  hgvsc: ENST00000508278.2:c.21+44C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  hgvsc: ENST00000535529.1:c.-92+44C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442878
  ensembl transcript: ENST00000543058
  gene symbol: MRPL48
  hgvsc: ENST00000543058.1:c.21+44C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  hgvsc: ENST00000544819.1:c.21+44C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000446144
  ensembl transcript: ENST00000537007
  gene symbol: MRPL48
  hgvsc: ENST00000537007.1:c.-186+44C>T
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3738
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5955
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD

11-73499084-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73499084
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73499084
    reference: chr 11
allele count: 1
allele frequency: 9.297828027372806e-6
allele num: 107552
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  hgvsc: ENST00000535277.1:c.-433+47T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  hgvsc: ENST00000508278.2:c.21+47T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  hgvsc: ENST00000535529.1:c.-92+47T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  hgvsc: ENST00000540162.1:c.21+47T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  hgvsc: ENST00000411840.2:c.-530+47T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  hgvsc: ENST00000544819.1:c.21+47T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442878
  ensembl transcript: ENST00000543058
  gene symbol: MRPL48
  hgvsc: ENST00000543058.1:c.21+47T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  hgvsc: ENST00000310614.7:c.21+47T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000446144
  ensembl transcript: ENST00000537007
  gene symbol: MRPL48
  hgvsc: ENST00000537007.1:c.-186+47T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  hgvsc: ENST00000544140.1:c.21+47T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  hgvsc: ENST00000398483.3:c.-395+47T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  hgvsc: ENST00000542303.1:c.21+47T>C
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  hgvsc: ENST00000497094.2:c.-398+47T>C
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9428
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-73499084-T-TGCAGAGAGGGGAGATGGCGGACGGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73499084
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73499109
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 107552
alternate allele: TGCAGAGAGGGGAGATGGCGGACGGG
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442878
  ensembl transcript: ENST00000543058
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000446144
  ensembl transcript: ENST00000537007
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3753
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9428
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

11-73499086-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73499086
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 73499086
    reference: chr 11
allele count: 1
allele frequency: 9.314629557182511e-6
allele num: 107358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442878
  ensembl transcript: ENST00000543058
  gene symbol: MRPL48
  hgvsc: ENST00000543058.1:c.21+49C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000443685
  ensembl transcript: ENST00000542303
  gene symbol: MRPL48
  hgvsc: ENST00000542303.1:c.21+49C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442783
  ensembl transcript: ENST00000535529
  gene symbol: MRPL48
  hgvsc: ENST00000535529.1:c.-92+49C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000444441
  ensembl transcript: ENST00000544140
  gene symbol: MRPL48
  hgvsc: ENST00000544140.1:c.21+49C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000446144
  ensembl transcript: ENST00000537007
  gene symbol: MRPL48
  hgvsc: ENST00000537007.1:c.-186+49C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000381497
  ensembl transcript: ENST00000398483
  gene symbol: MRPL48
  hgvsc: ENST00000398483.3:c.-395+49C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000445111
  ensembl transcript: ENST00000508278
  gene symbol: MRPL48
  hgvsc: ENST00000508278.2:c.21+49C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000399076
  ensembl transcript: ENST00000411840
  gene symbol: MRPL48
  hgvsc: ENST00000411840.2:c.-530+49C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000308717
  ensembl transcript: ENST00000310614
  gene symbol: MRPL48
  hgvsc: ENST00000310614.7:c.21+49C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439573
  ensembl transcript: ENST00000535277
  gene symbol: MRPL48
  hgvsc: ENST00000535277.1:c.-433+49C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000441925
  ensembl transcript: ENST00000540162
  gene symbol: MRPL48
  hgvsc: ENST00000540162.1:c.21+49C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000439632
  ensembl transcript: ENST00000497094
  gene symbol: MRPL48
  hgvsc: ENST00000497094.2:c.-398+49C>T
  variant of: http://identifiers.org/hgnc/16653
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175581
  ensembl protein: ENSP00000442146
  ensembl transcript: ENST00000544819
  gene symbol: MRPL48
  hgvsc: ENST00000544819.1:c.21+49C>T
  variant of: http://identifiers.org/hgnc/16653
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 591
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1249
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 135
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1962
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2084
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 838
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1794
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 837
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6734
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2948
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6154
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.209944751381215e-5
allele num: 45250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6914
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12192
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.612e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

QD
type: SiteQuality
SIO_000300: 7.69e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

MQ
type: SiteQuality
SIO_000300: 5.907e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.96865e5

GenotypeQuality
all individuals: 2266
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26599
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1361
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1250
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 301
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19750
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2904
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6812
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.493428912783751e-4
allele num: 6696
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6064
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12146
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44778
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.357e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

QD
type: SiteQuality
SIO_000300: 6.64e0

FS
type: SiteQuality
SIO_000300: 3.254e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

DP
type: SiteQuality
SIO_000300: 9.7866e5

GenotypeQuality
all individuals: 16131
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1667
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1131
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2266
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27538
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 908
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1249
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.27842333105491e-5
allele num: 43890
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5920
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12040
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2840
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 528
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.50372e5

FS
type: SiteQuality
SIO_000300: 3.126e0

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-1

QD
type: SiteQuality
SIO_000300: 1.156e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e-1

GenotypeQuality
all individuals: 676
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2257
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1050
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16708
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1739
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1640
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43974
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 532
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.291873963515754e-5
allele num: 12060
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6624
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5942
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.48907e5

FS
type: SiteQuality
SIO_000300: 3.002e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

VQSLOD
type: SiteQuality
SIO_000300: 9.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

QD
type: SiteQuality
SIO_000300: 9.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.27e-1

GenotypeQuality
all individuals: 350
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3185
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3006
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29947
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1249
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 262
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11824
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 508
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.768033946251768e-4
allele num: 5656
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41938
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6330
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6188
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.78673e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.159e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.919999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.6e-3

QD
type: SiteQuality
SIO_000300: 1.035e1

MQ
type: SiteQuality
SIO_000300: 5.895e1

GenotypeQuality
all individuals: 1251
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 364
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 11034
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 977
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3365
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 3.207184092366902e-4
allele num: 6236
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.789549033643522e-4
allele num: 5588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41402
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6084
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 502
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11810
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2582
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.720000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 2.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.56e0

DP
type: SiteQuality
SIO_000300: 8.61123e5

GenotypeQuality
all individuals: 1192
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3691
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1509
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1249
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5950
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6094
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.509189925119128e-5
allele num: 11752
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2478
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 490
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.407e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.100000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

MQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.8e-1

QD
type: SiteQuality
SIO_000300: 1.266e1

DP
type: SiteQuality
SIO_000300: 8.40189e5

GenotypeQuality
all individuals: 29718
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8531
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1249
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3572
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5392
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2370
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5910
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39676
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5816
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.554319931565441e-5
allele num: 11690
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.06e-2

MQ
type: SiteQuality
SIO_000300: 5.944e1

FS
type: SiteQuality
SIO_000300: 3.453e0

DP
type: SiteQuality
SIO_000300: 8.23713e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.66e-1

QD
type: SiteQuality
SIO_000300: 1.236e1

GenotypeQuality
all individuals: 1251
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1348
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1668
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3771
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5606
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5244
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2178
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.226571891496367e-5
allele num: 38266
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5690
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.3092e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e0

DP
type: SiteQuality
SIO_000300: 8.0383e5

ClippingRankSum
type: SiteQuality
SIO_000300: -8.54e-1

QD
type: SiteQuality
SIO_000300: 1.048e1

VQSLOD
type: SiteQuality
SIO_000300: -1.877e0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-2

GenotypeQuality
all individuals: 5344
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 14

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2198
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5058
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5300
num of homozygotes: 0

African
type: Population
allele count: 16
allele frequency: 2.88496213487198e-3
allele num: 5546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37454
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 478
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.88e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

QD
type: SiteQuality
SIO_000300: 1.346e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.24e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.01e-1

DP
type: SiteQuality
SIO_000300: 7.79915e5

GenotypeQuality
all individuals: 1307
bin: 6.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11218
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36098
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4850
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5368
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.996007984031936e-4
allele num: 5010
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2096
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

DP
type: SiteQuality
SIO_000300: 7.5507e5

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.225e-1

QD
type: SiteQuality
SIO_000300: 7.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.46e-2

GenotypeQuality
all individuals: 1287
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11136
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2050
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4770
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35404
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 7.561436672967864e-4
allele num: 5290
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 458
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.276e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.43888e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.56e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.21e-1

QD
type: SiteQuality
SIO_000300: 1.28e1

VQSLOD
type: SiteQuality
SIO_000300: 7.56e-1

GenotypeQuality
all individuals: 456
bin: 2.5e0
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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4333
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GenotypeQuality
all individuals: 1250
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1980
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.89804671651307e-5
allele num: 34506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4664
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10994
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.51e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

QD
type: SiteQuality
SIO_000300: 1.123e1

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

FS
type: SiteQuality
SIO_000300: 9.787000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.066e0

DP
type: SiteQuality
SIO_000300: 7.31306e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1250
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variant carriers: 1

GenotypeQuality
all individuals: 4345
bin: 2.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 9.095870474804439e-5
allele num: 10994
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1980
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4664
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5166
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34506
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

QD
type: SiteQuality
SIO_000300: 1.123e1

MQ
type: SiteQuality
SIO_000300: 5.925e1

DP
type: SiteQuality
SIO_000300: 7.31306e5

FS
type: SiteQuality
SIO_000300: 9.787000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -1.066e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.51e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.75e-1

GenotypeQuality
all individuals: 526
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 506
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variant carriers: 1

GenotypeQuality
all individuals: 4293
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 205
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GenotypeQuality
all individuals: 532
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1840
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 6.060606060606061e-4
allele num: 4950
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32802
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4294
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10776
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.14e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.18497e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.86e-2

FS
type: SiteQuality
SIO_000300: 5.414e0

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

QD
type: SiteQuality
SIO_000300: 1.058e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

GenotypeQuality
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GenotypeQuality
all individuals: 261
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32586
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4346
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4908
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.325581395348837e-3
allele num: 430
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 5.580357142857143e-4
allele num: 10752
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1806
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.18026e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.93e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.17e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.435e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.09e0

GenotypeQuality
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bin: 3.25e1
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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4920
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 6.204243702692642e-5
allele num: 32236
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1796
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4242
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4186
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10718
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.548e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.833e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.89e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.86e-1

DP
type: SiteQuality
SIO_000300: 7.1326e5

QD
type: SiteQuality
SIO_000300: 1.196e1

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
all individuals: 510
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1724
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.245699448231094e-5
allele num: 30810
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10524
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 416
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4770
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4026
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3902
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.213e1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.06e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.92e-1

FS
type: SiteQuality
SIO_000300: 3.153e0

DP
type: SiteQuality
SIO_000300: 7.06861e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.522e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3762
bin: 7.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

African
type: Population
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: 870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.574704931531916e-5
allele num: 65578
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.771563e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.196e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ReadPosRankSum
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
SIO_000300: 2.459e0

BaseQRankSum
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SIO_000300: -1.175e0

GenotypeQuality
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variant carriers: 0

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

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele frequency: 2.106593638087213e-4
allele num: 9494
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.524250830716703e-5
allele num: 65606
num of homozygotes: 0

Latino
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.251e0

DP
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: 2.1e-3

QD
type: SiteQuality
SIO_000300: 1.238e1

FS
type: SiteQuality
SIO_000300: 4.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8.730574471800244e-5
allele num: 11454
num of homozygotes: 0

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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European (Finnish)
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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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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.046458492003047e-5
allele num: 65650
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DP
type: SiteQuality
SIO_000300: 1.77509e6

FS
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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SIO_000300: 2.0e-3

BaseQRankSum
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ReadPosRankSum
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SIO_000300: 4.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

QD
type: SiteQuality
SIO_000300: 1.292e1

MQ
type: SiteQuality
SIO_000300: 5.942e1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6434
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
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
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allele num: 65636
num of homozygotes: 0

East Asian
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South Asian
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MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

DP
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VQSLOD
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MQ
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ReadPosRankSum
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SIO_000300: -2.55e-1

BaseQRankSum
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SIO_000300: -1.444e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
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SIO_000300: 6.7e0

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

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

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

African
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allele frequency: 2.103934357248054e-4
allele num: 9506
num of homozygotes: 0

Other
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65670
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

InbreedingCoeff
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DP
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MQRankSum
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ClippingRankSum
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VQSLOD
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MQ
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FS
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SIO_000300: 0.0e0

BaseQRankSum
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QD
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SIO_000300: 1.651e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

Latino
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allele num: 11448
num of homozygotes: 0

European (Non-Finnish)
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Other
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VQSLOD
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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MQ
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FS
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DP
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BaseQRankSum
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

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

Other
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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

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

GenotypeDepth
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variant carriers: 3

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

South Asian
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Latino
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allele frequency: 1.134578460464305e-3
allele num: 11458
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Other
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allele frequency: 3.424657534246575e-3
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European (Non-Finnish)
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allele frequency: 4.566627089231893e-4
allele num: 65694
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 4.201680672268908e-4
allele num: 9520
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QD
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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MQ
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MQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6444
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
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allele num: 65790
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Latino
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Other
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African
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East Asian
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South Asian
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ReadPosRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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DP
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QD
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FS
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InbreedingCoeff
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BaseQRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

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

East Asian
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allele num: 8598
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Other
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 1.515197430225158e-5
allele num: 65998
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Other
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European (Finnish)
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African
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Latino
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MQRankSum
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MQ
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QD
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ReadPosRankSum
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DP
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FS
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.029660375071954e-5
allele num: 66014
num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 3.028467595396729e-5
allele num: 66040
num of homozygotes: 0

South Asian
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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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Latino
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DP
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MQRankSum
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ReadPosRankSum
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MQ
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FS
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BaseQRankSum
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VQSLOD
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QD
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InbreedingCoeff
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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African
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European (Non-Finnish)
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East Asian
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European (Finnish)
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Latino
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MQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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MQ
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QD
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DP
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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European (Non-Finnish)
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allele num: 66034
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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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num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.263e1

FS
type: SiteQuality
SIO_000300: 3.817e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

MQ
type: SiteQuality
SIO_000300: 6.046e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e-1

DP
type: SiteQuality
SIO_000300: 1.872166e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

GenotypeDepth
all individuals: 112
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 21468
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6454
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.688097306689835e-5
allele num: 11510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66028
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16338
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.871224e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.39e-1

MQ
type: SiteQuality
SIO_000300: 5.77e1

FS
type: SiteQuality
SIO_000300: 1.097e0

QD
type: SiteQuality
SIO_000300: 1.249e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

VQSLOD
type: SiteQuality
SIO_000300: -5.014999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.41e-1

GenotypeDepth
all individuals: 6036
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6444
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16340
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.075980900975711e-4
allele num: 9634
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66044
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.085e0

QD
type: SiteQuality
SIO_000300: 2.44e1

VQSLOD
type: SiteQuality
SIO_000300: -8.51e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

DP
type: SiteQuality
SIO_000300: 1.871762e6

MQ
type: SiteQuality
SIO_000300: 5.866e1

FS
type: SiteQuality
SIO_000300: 7.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.05e-1

GenotypeDepth
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bin: 5.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.548211036992117e-5
allele num: 65960
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9608
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16340
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.29e-1

MQ
type: SiteQuality
SIO_000300: 5.787e1

QD
type: SiteQuality
SIO_000300: 1.43e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

FS
type: SiteQuality
SIO_000300: 6.012e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

DP
type: SiteQuality
SIO_000300: 1.87095e6

GenotypeDepth
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bin: 2.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2173
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 8.135750813575082e-4
allele num: 8604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66004
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16344
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.126e0

QD
type: SiteQuality
SIO_000300: 8.68e0

MQ
type: SiteQuality
SIO_000300: 5.826e1

VQSLOD
type: SiteQuality
SIO_000300: -1.096e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

DP
type: SiteQuality
SIO_000300: 1.871055e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

GenotypeDepth
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bin: 1.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517911353976928e-5
allele num: 65880
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9592
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16344
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.870621e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

MQRankSum
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MQ
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QD
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VQSLOD
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.33e-1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6430
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518925815663163e-5
allele num: 65836
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.05e-1

DP
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MQ
type: SiteQuality
SIO_000300: 5.739e1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.67e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -6.899999999999999e-1

GenotypeDepth
all individuals: 6076
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 7.25e1
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

European (Non-Finnish)
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allele count: 1
allele frequency: 1.520681265206813e-5
allele num: 65760
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
allele num: 9618
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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European (Non-Finnish)
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allele count: 0
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South Asian
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Other
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MQRankSum
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BaseQRankSum
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FS
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ReadPosRankSum
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MQ
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DP
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InbreedingCoeff
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VQSLOD
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65352
num of homozygotes: 0

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

South Asian
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num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11340
num of homozygotes: 0

Other
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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QD
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MQ
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ClippingRankSum
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VQSLOD
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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DP
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GenotypeDepth
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variant carriers: 1

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 64206
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African
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Other
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East Asian
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European (Finnish)
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MQ
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DP
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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FS
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MQRankSum
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.588915723910004e-5
allele num: 62936
num of homozygotes: 0

Other
type: Population
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African
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Latino
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South Asian
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East Asian
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European (Finnish)
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VQSLOD
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FS
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QD
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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DP
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 65744
num of homozygotes: 0

Other
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European (Finnish)
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South Asian
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Latino
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African
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East Asian
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MQ
type: SiteQuality
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QD
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SIO_000300: 1.228e1

FS
type: SiteQuality
SIO_000300: 4.782e0

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

DP
type: SiteQuality
SIO_000300: 1.954727e6

VQSLOD
type: SiteQuality
SIO_000300: 2.91e-1

GenotypeDepth
all individuals: 690
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variant carriers: 0

GenotypeDepth
all individuals: 895
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variant carriers: 0

GenotypeDepth
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bin: 3.75e1
variant carriers: 0

GenotypeDepth
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 779
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3840
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4695
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9568
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65744
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.130456105934282e-5
allele num: 16312
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.228e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

MQ
type: SiteQuality
SIO_000300: 5.975e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.91e-1

FS
type: SiteQuality
SIO_000300: 4.782e0

DP
type: SiteQuality
SIO_000300: 1.954727e6

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.78e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9236
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2354
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8400
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60560
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.369426751592356e-5
allele num: 15700
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.788e1

DP
type: SiteQuality
SIO_000300: 1.999659e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.58e-2

QD
type: SiteQuality
SIO_000300: 5.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.1e-2

VQSLOD
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SIO_000300: -3.506e0

MQRankSum
type: SiteQuality
SIO_000300: -1.458e0

FS
type: SiteQuality
SIO_000300: 3.495e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.219e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e0

GenotypeDepth
all individuals: 284
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14446
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 988
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1754
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8688
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15810
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.665571235260003e-5
allele num: 10346
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5662
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8422
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

FS
type: SiteQuality
SIO_000300: 2.165e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.96e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.291e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.4e-2

MQ
type: SiteQuality
SIO_000300: 5.596e1

VQSLOD
type: SiteQuality
SIO_000300: 8.64e-1

DP
type: SiteQuality
SIO_000300: 1.982461e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.779999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.91e0

GenotypeDepth
all individuals: 756
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 427
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14446
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2170
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8688
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.325110689437066e-5
allele num: 15810
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5662
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8422
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61296
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.779999999999999e-2

FS
type: SiteQuality
SIO_000300: 2.165e0

VQSLOD
type: SiteQuality
SIO_000300: 8.64e-1

DP
type: SiteQuality
SIO_000300: 1.982461e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.96e-1

MQ
type: SiteQuality
SIO_000300: 5.596e1

QD
type: SiteQuality
SIO_000300: 1.91e0

MQRankSum
type: SiteQuality
SIO_000300: -1.291e0

GenotypeDepth
all individuals: 6307
bin: 3.75e1
variant carriers: 80

GenotypeQuality
all individuals: 14820
bin: 6.25e1
variant carriers: 26

GenotypeQuality
all individuals: 2170
bin: 9.25e1
variant carriers: 11

GenotypeQuality
all individuals: 503
bin: 7.5e0
variant carriers: 10

GenotypeQuality
all individuals: 914
bin: 3.75e1
variant carriers: 20

GenotypeQuality
all individuals: 377
bin: 1.25e1
variant carriers: 12

GenotypeQuality
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bin: 3.25e1
variant carriers: 19

GenotypeQuality
all individuals: 589
bin: 5.25e1
variant carriers: 26

GenotypeQuality
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bin: 1.75e1
variant carriers: 18

GenotypeQuality
all individuals: 3109
bin: 2.5e0
variant carriers: 9

GenotypeQuality
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bin: 6.75e1
variant carriers: 28

GenotypeQuality
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bin: 2.25e1
variant carriers: 16

GenotypeQuality
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bin: 4.25e1
variant carriers: 27

GenotypeQuality
all individuals: 579
bin: 5.75e1
variant carriers: 25

GenotypeQuality
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bin: 2.75e1
variant carriers: 19

GenotypeQuality
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bin: 7.75e1
variant carriers: 20

GenotypeQuality
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bin: 8.25e1
variant carriers: 12

GenotypeQuality
all individuals: 614
bin: 4.75e1
variant carriers: 27

GenotypeQuality
all individuals: 3079
bin: 7.25e1
variant carriers: 17

GenotypeQuality
all individuals: 1754
bin: 8.75e1
variant carriers: 19

GenotypeQuality
all individuals: 14446
bin: 9.75e1
variant carriers: 1404

East Asian
type: Population
allele count: 117
allele frequency: 1.389218712894799e-2
allele num: 8422
num of homozygotes: 16

European (Finnish)
type: Population
allele count: 212
allele frequency: 3.744259978806076e-2
allele num: 5662
num of homozygotes: 37

Other
type: Population
allele count: 11
allele frequency: 1.371571072319202e-2
allele num: 802
num of homozygotes: 1

South Asian
type: Population
allele count: 81
allele frequency: 5.123339658444023e-3
allele num: 15810
num of homozygotes: 3

African
type: Population
allele count: 214
allele frequency: 2.46316758747698e-2
allele num: 8688
num of homozygotes: 32

European (Non-Finnish)
type: Population
allele count: 1137
allele frequency: 1.854933437744714e-2
allele num: 61296
num of homozygotes: 129

Latino
type: Population
allele count: 120
allele frequency: 1.1598685482312e-2
allele num: 10346
num of homozygotes: 19

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.4e-2

FS
type: SiteQuality
SIO_000300: 2.165e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.779999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.596e1

MQRankSum
type: SiteQuality
SIO_000300: -1.291e0

VQSLOD
type: SiteQuality
SIO_000300: 8.64e-1

QD
type: SiteQuality
SIO_000300: 1.91e0

DP
type: SiteQuality
SIO_000300: 1.982461e6

GenotypeDepth
all individuals: 9950
bin: 3.25e1
variant carriers: 1

GenotypeQuality
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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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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14446
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5662
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15810
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8688
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.665571235260003e-5
allele num: 10346
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.291e0

QD
type: SiteQuality
SIO_000300: 1.91e0

VQSLOD
type: SiteQuality
SIO_000300: 8.64e-1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 5.596e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.4e-2

FS
type: SiteQuality
SIO_000300: 2.165e0

DP
type: SiteQuality
SIO_000300: 1.982461e6

GenotypeDepth
all individuals: 193
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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3126
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1754
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3813
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14446
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 589
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15810
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8422
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.631427825632994e-5
allele num: 61296
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8688
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5662
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.291e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.779999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.982461e6

FS
type: SiteQuality
SIO_000300: 2.165e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.96e-1

QD
type: SiteQuality
SIO_000300: 1.91e0

MQ
type: SiteQuality
SIO_000300: 5.596e1

GenotypeDepth
all individuals: 284
bin: 7.75e1
variant carriers: 16

GenotypeQuality
all individuals: 14820
bin: 6.25e1
variant carriers: 15

GenotypeQuality
all individuals: 608
bin: 4.25e1
variant carriers: 7

GenotypeQuality
all individuals: 873
bin: 2.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3813
bin: 7.75e1
variant carriers: 11

GenotypeQuality
all individuals: 3079
bin: 7.25e1
variant carriers: 13

GenotypeQuality
all individuals: 427
bin: 1.75e1
variant carriers: 4

GenotypeQuality
all individuals: 614
bin: 4.75e1
variant carriers: 16

GenotypeQuality
all individuals: 589
bin: 5.25e1
variant carriers: 11

GenotypeQuality
all individuals: 1559
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 14446
bin: 9.75e1
variant carriers: 4971

GenotypeQuality
all individuals: 579
bin: 5.75e1
variant carriers: 12

GenotypeQuality
all individuals: 914
bin: 3.75e1
variant carriers: 7

GenotypeQuality
all individuals: 377
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 988
bin: 3.25e1
variant carriers: 4

GenotypeQuality
all individuals: 3109
bin: 2.5e0
variant carriers: 6

GenotypeQuality
all individuals: 503
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3126
bin: 8.25e1
variant carriers: 14

GenotypeQuality
all individuals: 2170
bin: 9.25e1
variant carriers: 22

GenotypeQuality
all individuals: 6119
bin: 6.75e1
variant carriers: 19

GenotypeQuality
all individuals: 1754
bin: 8.75e1
variant carriers: 18

Other
type: Population
allele count: 38
allele frequency: 4.738154613466334e-2
allele num: 802
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 3446
allele frequency: 5.621900287131297e-2
allele num: 61296
num of homozygotes: 69

European (Finnish)
type: Population
allele count: 175
allele frequency: 3.090780642882374e-2
allele num: 5662
num of homozygotes: 2

East Asian
type: Population
allele count: 66
allele frequency: 7.836618380432201e-3
allele num: 8422
num of homozygotes: 0

African
type: Population
allele count: 144
allele frequency: 1.657458563535912e-2
allele num: 8688
num of homozygotes: 2

Latino
type: Population
allele count: 310
allele frequency: 2.996327082930601e-2
allele num: 10346
num of homozygotes: 3

South Asian
type: Population
allele count: 1035
allele frequency: 6.546489563567362e-2
allele num: 15810
num of homozygotes: 42

QD
type: SiteQuality
SIO_000300: 1.91e0

DP
type: SiteQuality
SIO_000300: 1.982461e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.4e-2

MQ
type: SiteQuality
SIO_000300: 5.596e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.779999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.64e-1

FS
type: SiteQuality
SIO_000300: 2.165e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.291e0

GenotypeDepth
all individuals: 630
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1464
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3611
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1373
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6868
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16033
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 768
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2024
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3458
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4366
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11555
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2588
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6030
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10884
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14308
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.700275444622029e-5
allele num: 58814
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.361e0

QD
type: SiteQuality
SIO_000300: 2.019e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.247e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

FS
type: SiteQuality
SIO_000300: 1.062e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.89e-1

DP
type: SiteQuality
SIO_000300: 1.786888e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 71
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1462
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3715
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2594
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1342
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3462
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15386
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6843
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4384
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3625
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11607
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 238
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 872
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2026
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58984
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 6.473888649115235e-4
allele num: 9268
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14310
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6064
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.354e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.53e-1

FS
type: SiteQuality
SIO_000300: 4.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-1

DP
type: SiteQuality
SIO_000300: 1.781855e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.379999999999999e-1

GenotypeDepth
all individuals: 174
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 853
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 605
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1464
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 773
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4365
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1075
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3447
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 147
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variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1309
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2018
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1052
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1187
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2594
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13501
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6642
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11607
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 578
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3626
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58890
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.009673349221926e-5
allele num: 14266
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6040
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9246
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10890
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.931e1

QD
type: SiteQuality
SIO_000300: 1.322e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

DP
type: SiteQuality
SIO_000300: 1.773242e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.432e0

GenotypeDepth
all individuals: 2348
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 223
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 626
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3597
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13170
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1241
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1291
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11571
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3383
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2008
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2567
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 778
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1109
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6500
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1232
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4292
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14196
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.083893344894862e-4
allele num: 9226
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58672
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10844
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6026
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.75e-1

DP
type: SiteQuality
SIO_000300: 1.773465e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.659e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.52e-1

MQ
type: SiteQuality
SIO_000300: 5.836e1

FS
type: SiteQuality
SIO_000300: 6.295e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

QD
type: SiteQuality
SIO_000300: 1.92e0

GenotypeDepth
all individuals: 860
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5985
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 224
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3753
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4282
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 848
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1272
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1117
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1484
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1992
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1076
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12424
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6390
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1306
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2556
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3578
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3339
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 809
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11361
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14204
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9104
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10836
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5932
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.715324710967786e-5
allele num: 58298
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8386
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.11e-2

VQSLOD
type: SiteQuality
SIO_000300: -6.645e-1

DP
type: SiteQuality
SIO_000300: 1.772171e6

MQRankSum
type: SiteQuality
SIO_000300: 6.29e-1

QD
type: SiteQuality
SIO_000300: 3.08e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

FS
type: SiteQuality
SIO_000300: 6.663e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.56e-1

GenotypeDepth
all individuals: 11650
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 848
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2556
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3339
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11361
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1306
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1272
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
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variant carriers: 1

GenotypeQuality
all individuals: 12424
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 809
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1117
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1076
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4282
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1484
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1992
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6390
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3578
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9104
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58298
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10836
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8386
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5932
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14204
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.645e-1

DP
type: SiteQuality
SIO_000300: 1.772171e6

FS
type: SiteQuality
SIO_000300: 6.663e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.11e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e0

QD
type: SiteQuality
SIO_000300: 3.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.2e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

GenotypeDepth
all individuals: 91
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 358
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1469
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 600
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11485
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 2.5e0
variant carriers: 0