19-8495575-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8495575
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 8495575
    reference: chr 19
allele count: 2
allele frequency: 1.656479318855704e-5
allele num: 120738
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099785
  ensembl transcript: ENST00000594796
  gene symbol: MARCH2
  hgvsc: ENST00000594796.1:n.320C>T
  variant of: http://identifiers.org/hgnc/28038
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099785
  ensembl protein: ENSP00000215555
  ensembl transcript: ENST00000215555
  gene symbol: MARCH2
  hgvsc: ENST00000215555.2:c.406C>T
  hgvsp: ENSP00000215555.2:p.Arg136Trp
  variant of: http://identifiers.org/hgnc/28038
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099785
  ensembl protein: ENSP00000370423
  ensembl transcript: ENST00000381035
  gene symbol: MARCH2
  hgvsc: ENST00000381035.4:c.372+3887C>T
  variant of: http://identifiers.org/hgnc/28038
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099785
  ensembl protein: ENSP00000471536
  ensembl transcript: ENST00000602117
  gene symbol: MARCH2
  hgvsc: ENST00000602117.1:c.406C>T
  hgvsp: ENSP00000471536.1:p.Arg136Trp
  variant of: http://identifiers.org/hgnc/28038
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099785
  ensembl protein: ENSP00000469386
  ensembl transcript: ENST00000601283
  gene symbol: MARCH2
  hgvsc: ENST00000601283.1:c.112-7844C>T
  variant of: http://identifiers.org/hgnc/28038
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099785
  ensembl protein: ENSP00000377518
  ensembl transcript: ENST00000393944
  gene symbol: MARCH2
  hgvsc: ENST00000393944.1:c.406C>T
  hgvsp: ENSP00000377518.1:p.Arg136Trp
  variant of: http://identifiers.org/hgnc/28038
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg136Trp
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

19-49994082-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994082
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994082
    reference: chr 19
allele count: 1
allele frequency: 8.28225940036442e-6
allele num: 120740
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.325T>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*330T>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.95T>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.495T>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.976T>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.303T>C
  hgvsp: ENST00000391857.4:c.303T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000486930
  gene symbol: RPL13A
  hgvsc: ENST00000486930.1:n.626T>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.181T>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.323T>C
  hgvsp: ENST00000467825.2:c.323T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1013T>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.413T>C
  variant of: http://identifiers.org/hgnc/10304
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14740
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4418
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg101Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

19-49994087-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994087
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994087
    reference: chr 19
allele count: 1
allele frequency: 8.281710670156027e-6
allele num: 120748
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000486930
  gene symbol: RPL13A
  hgvsc: ENST00000486930.1:n.631A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.328A>G
  hgvsp: ENSP00000470037.2:p.Lys110Arg
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.330A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.418A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.500A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.981A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*335A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1018A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.100A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.308A>G
  hgvsp: ENSP00000375730.4:p.Lys103Arg
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.186A>G
  variant of: http://identifiers.org/hgnc/10304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12906
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys103Arg
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-49994097-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994097
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994097
    reference: chr 19
allele count: 6
allele frequency: 4.971167230065619e-5
allele num: 120696
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.338C>T
  hgvsp: ENST00000467825.2:c.338C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.991C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.110C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.1C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*345C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.340C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.428C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.196C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1028C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000486930
  gene symbol: RPL13A
  hgvsc: ENST00000486930.1:n.641C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.318C>T
  hgvsp: ENST00000391857.4:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.510C>T
  variant of: http://identifiers.org/hgnc/10304
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14616
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp106Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ

19-49994103-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994103
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994103
    reference: chr 19
allele count: 2
allele frequency: 1.657330372236402e-5
allele num: 120676
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.116C>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*351C>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.7C>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.344C>G
  hgvsp: ENSP00000470037.2:p.Ile115Met
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.324C>G
  hgvsp: ENSP00000375730.4:p.Ile108Met
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.434C>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.516C>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.202C>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.346C>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.997C>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1034C>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000486930
  gene symbol: RPL13A
  hgvsc: ENST00000486930.1:n.647C>G
  variant of: http://identifiers.org/hgnc/10304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16157
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile108Met
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP

19-49994103-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994103
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994103
    reference: chr 19
allele count: 113
allele frequency: 9.363916603135669e-4
allele num: 120676
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.516C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1034C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.7C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.346C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.434C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.997C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*351C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.324C>T
  hgvsp: ENST00000391857.4:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.116C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000486930
  gene symbol: RPL13A
  hgvsc: ENST00000486930.1:n.647C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.344C>T
  hgvsp: ENST00000467825.2:c.344C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.202C>T
  variant of: http://identifiers.org/hgnc/10304
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3917
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14530
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7360
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile108Ile
num of homozygotes: 2
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

19-49994106-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994106
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994106
    reference: chr 19
allele count: 2
allele frequency: 1.657522666622466e-5
allele num: 120662
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.349A>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.10A>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.347A>T
  hgvsp: ENST00000467825.2:c.347A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.205A>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.119A>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*354A>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.437A>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000486930
  gene symbol: RPL13A
  hgvsc: ENST00000486930.1:n.650A>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.327A>T
  hgvsp: ENST00000391857.4:c.327A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1037A>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1000A>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.519A>T
  variant of: http://identifiers.org/hgnc/10304
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12908
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro109Pro
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-49994107-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994107
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994107
    reference: chr 19
allele count: 1
allele frequency: 8.287201246395068e-6
allele num: 120668
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.328C>A
  hgvsp: ENSP00000375730.4:p.Pro110Thr
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1038C>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.520C>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.350C>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*355C>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.348C>A
  hgvsp: ENSP00000470037.2:p.Pro117Thr
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1001C>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000486930
  gene symbol: RPL13A
  hgvsc: ENST00000486930.1:n.651C>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.206C>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.120C>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.438C>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.11C>A
  variant of: http://identifiers.org/hgnc/10304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3927
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro110Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

19-49994108-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994108
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994108
    reference: chr 19
allele count: 3
allele frequency: 2.486448853747078e-5
allele num: 120654
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.439C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.12C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.349C>T
  hgvsp: ENSP00000470037.2:p.Pro117Leu
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.121C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.207C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.351C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.329C>T
  hgvsp: ENSP00000375730.4:p.Pro110Leu
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1002C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000486930
  gene symbol: RPL13A
  hgvsc: ENST00000486930.1:n.652C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*356C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1039C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.521C>T
  variant of: http://identifiers.org/hgnc/10304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3927
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro110Leu
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD

19-49994109-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994109
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994109
    reference: chr 19
allele count: 1477
allele frequency: 1.22414136056226e-2
allele num: 120656
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.522G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1040G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.350G>A
  hgvsp: ENST00000467825.2:c.350G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.440G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.208G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1003G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*357G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.13G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.122G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.330G>A
  hgvsp: ENST00000391857.4:c.330G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.352G>A
  variant of: http://identifiers.org/hgnc/10304
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 15754
  bin: 2.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 14266
  bin: 2.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 5.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12560
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 110
genotype depth: GenotypeDepth
  all individuals: 3817
  bin: 4.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.25e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 4.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 7210
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 9.75e1
  variant carriers: 650
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro110Pro
num of homozygotes: 12
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

19-49994115-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994115
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994115
    reference: chr 19
allele count: 30
allele frequency: 2.486325211337643e-4
allele num: 120660
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.214C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.358C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1009C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1046C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.356C>T
  hgvsp: ENST00000467825.2:c.356C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.19C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.528C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.336C>T
  hgvsp: ENST00000391857.4:c.336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.446C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.128C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*363C>T
  variant of: http://identifiers.org/hgnc/10304
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14336
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3971
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15788
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7354
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3298
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr112Tyr
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

19-49994116-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994116
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994116
    reference: chr 19
allele count: 3
allele frequency: 2.486448853747078e-5
allele num: 120654
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.359G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.337G>A
  hgvsp: ENSP00000375730.4:p.Asp113Asn
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1047G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.357G>A
  hgvsp: ENSP00000470037.2:p.Asp120Asn
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.20G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.215G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.529G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.129G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*364G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.447G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1010G>A
  variant of: http://identifiers.org/hgnc/10304
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12654
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp113Asn
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

19-49994126-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994126
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994126
    reference: chr 19
allele count: 3
allele frequency: 2.486448853747078e-5
allele num: 120654
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.25+5G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.362+5G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1057G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.452+5G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.342+5G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1020G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*369+5G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.534+5G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.139G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.369G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.220+5G>A
  variant of: http://identifiers.org/hgnc/10304
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7352
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.342+5G>A
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

19-49994127-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994127
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994127
    reference: chr 19
allele count: 1
allele frequency: 8.287888080359362e-6
allele num: 120658
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.370C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.140C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.220+6C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.452+6C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.25+6C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.342+6C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1058C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*369+6C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.534+6C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.362+6C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1021C>T
  variant of: http://identifiers.org/hgnc/10304
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.342+6C>T
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

19-49994129-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994129
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994129
    reference: chr 19
allele count: 1
allele frequency: 8.287338604080686e-6
allele num: 120666
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*369+8A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.534+8A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.342+8A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.372A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1060A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.25+8A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.362+8A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.452+8A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.220+8A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1023A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.142A>G
  variant of: http://identifiers.org/hgnc/10304
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15823
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.342+8A>G
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/19-49994138-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994138
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994138
    reference: chr 19
allele count: 99
allele frequency: 8.205009199555769e-4
allele num: 120658
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.151C>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.342+17C>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*369+17C>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.362+17C>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.220+17C>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.534+17C>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.452+17C>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1032C>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1069C>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.381C>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.25+17C>A
  variant of: http://identifiers.org/hgnc/10304
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 12663
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 15767
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 7350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 14301
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 1
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ

19-49994138-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994138
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994138
    reference: chr 19
allele count: 1
allele frequency: 8.287888080359362e-6
allele num: 120658
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.534+17C>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1069C>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.452+17C>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*369+17C>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.220+17C>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1032C>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.381C>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.342+17C>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.151C>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.362+17C>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.25+17C>G
  variant of: http://identifiers.org/hgnc/10304
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15767
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

19-49994139-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994139
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994139
    reference: chr 19
allele count: 1
allele frequency: 8.289124668435012e-6
allele num: 120640
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1070C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.152C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.220+18C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.534+18C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.342+18C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.382C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.452+18C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1033C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*369+18C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.25+18C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.362+18C>T
  variant of: http://identifiers.org/hgnc/10304
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

19-49994142-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994142
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994142
    reference: chr 19
allele count: 1
allele frequency: 8.288437629506838e-6
allele num: 120650
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1073C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.220+21C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.342+21C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.385C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.362+21C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.25+21C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.452+21C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1036C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.534+21C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.155C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*369+21C>T
  variant of: http://identifiers.org/hgnc/10304
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2577
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum

19-49994146-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994146
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994146
    reference: chr 19
allele count: 1
allele frequency: 8.288849839196314e-6
allele num: 120644
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.362+25C>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1077C>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.452+25C>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.342+25C>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.220+25C>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.389C>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*369+25C>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1040C>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.159C>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.25+25C>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.534+25C>G
  variant of: http://identifiers.org/hgnc/10304
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14279
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15767
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-49994148-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994148
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994148
    reference: chr 19
allele count: 1
allele frequency: 8.288437629506838e-6
allele num: 120650
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.534+27G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.161G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.220+27G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*369+27G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.391G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.25+27G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1079G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.362+27G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.452+27G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1042G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.342+27G>A
  variant of: http://identifiers.org/hgnc/10304
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12678
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15764
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
reference allele: G
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

19-49994149-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994149
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994149
    reference: chr 19
allele count: 4
allele frequency: 3.315375051802735e-5
allele num: 120650
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.342+28C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*369+28C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1080C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.162C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.220+28C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.452+28C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.362+28C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.392C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.534+28C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1043C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.25+28C>T
  variant of: http://identifiers.org/hgnc/10304
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15775
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7355
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4332
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

19-49994150-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994150
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994150
    reference: chr 19
allele count: 2
allele frequency: 1.657797450307521e-5
allele num: 120642
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.393G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.25+29G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1081G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.342+29G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.452+29G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.220+29G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1044G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.163G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.362+29G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*369+29G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.534+29G>A
  variant of: http://identifiers.org/hgnc/10304
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4328
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

19-49994154-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994154
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994154
    reference: chr 19
allele count: 2
allele frequency: 1.657275439177991e-5
allele num: 120680
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1048T>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.362+33T>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.342+33T>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.220+33T>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.397T>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1085T>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.452+33T>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.167T>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.534+33T>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.25+33T>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*369+33T>A
  variant of: http://identifiers.org/hgnc/10304
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15808
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12678
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/19-49994157-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994157
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994157
    reference: chr 19
allele count: 2
allele frequency: 1.657138122462507e-5
allele num: 120690
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1088C>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.220+36C>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.362+36C>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.170C>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.342+36C>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1051C>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.452+36C>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.25+36C>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.534+36C>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.400C>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*369+36C>A
  variant of: http://identifiers.org/hgnc/10304
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3305
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

19-49994157-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994157
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994157
    reference: chr 19
allele count: 2
allele frequency: 1.657138122462507e-5
allele num: 120690
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1088C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*369+36C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.25+36C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.220+36C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.534+36C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.362+36C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.400C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.170C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.452+36C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.342+36C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1051C>T
  variant of: http://identifiers.org/hgnc/10304
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP

19-49994158-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994158
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994158
    reference: chr 19
allele count: 6
allele frequency: 4.971084856418499e-5
allele num: 120698
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.25+37C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.342+37C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.534+37C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.401C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1052C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.171C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.220+37C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.362+37C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1089C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*369+37C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.452+37C>T
  variant of: http://identifiers.org/hgnc/10304
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

19-49994162-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994162
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994162
    reference: chr 19
allele count: 1
allele frequency: 8.285278716776033e-6
allele num: 120696
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.220+41G>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.362+41G>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.25+41G>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1056G>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.405G>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1093G>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.342+41G>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.452+41G>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.175G>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.534+41G>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000202503
  ensembl transcript: ENST00000365633
  gene symbol: SNORD34
  hgvsc: ENST00000365633.1:n.2G>C
  variant of: http://identifiers.org/hgnc/10161
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*369+41G>C
  variant of: http://identifiers.org/hgnc/10304
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

19-49994165-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994165
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994165
    reference: chr 19
allele count: 3
allele frequency: 2.485007123687088e-5
allele num: 120724
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000202503
  ensembl transcript: ENST00000365633
  gene symbol: SNORD34
  hgvsc: ENST00000365633.1:n.5G>A
  variant of: http://identifiers.org/hgnc/10161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.408G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.452+44G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.362+44G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.25+44G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1096G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.342+44G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*369+44G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.178G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1059G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.220+44G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.534+44G>A
  variant of: http://identifiers.org/hgnc/10304
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP

19-49994169-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994169
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994169
    reference: chr 19
allele count: 7
allele frequency: 5.797581580255093e-5
allele num: 120740
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.220+48A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000202503
  ensembl transcript: ENST00000365633
  gene symbol: SNORD34
  hgvsc: ENST00000365633.1:n.9A>G
  variant of: http://identifiers.org/hgnc/10161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.534+48A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.452+48A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.412A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.25+48A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1063A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*369+48A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.362+48A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.182A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1100A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.342+48A>G
  variant of: http://identifiers.org/hgnc/10304
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14326
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

19-49994178-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994178
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994178
    reference: chr 19
allele count: 2
allele frequency: 1.656232402530723e-5
allele num: 120756
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1072C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1109C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.362+57C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*369+57C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.534+57C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.25+57C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.452+57C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.191C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.421C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.342+57C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.220+57C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000202503
  ensembl transcript: ENST00000365633
  gene symbol: SNORD34
  hgvsc: ENST00000365633.1:n.18C>T
  variant of: http://identifiers.org/hgnc/10161
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

19-49994179-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994179
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994179
    reference: chr 19
allele count: 46
allele frequency: 3.80914526092645e-4
allele num: 120762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.220+58G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1110G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.534+58G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.362+58G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*369+58G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.342+58G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.192G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.25+58G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.422G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000202503
  ensembl transcript: ENST00000365633
  gene symbol: SNORD34
  hgvsc: ENST00000365633.1:n.19G>A
  variant of: http://identifiers.org/hgnc/10161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1073G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.452+58G>A
  variant of: http://identifiers.org/hgnc/10304
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12677
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7359
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14433
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP

19-49994181-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994181
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994181
    reference: chr 19
allele count: 1
allele frequency: 8.27787159365584e-6
allele num: 120804
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1075A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.452+60A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.220+60A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.194A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000202503
  ensembl transcript: ENST00000365633
  gene symbol: SNORD34
  hgvsc: ENST00000365633.1:n.21A>G
  variant of: http://identifiers.org/hgnc/10161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.424A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.534+60A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*369+60A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1112A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.362+60A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.342+60A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.25+60A>G
  variant of: http://identifiers.org/hgnc/10304
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14444
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

19-49994182-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994182
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994182
    reference: chr 19
allele count: 4
allele frequency: 3.31087456751701e-5
allele num: 120814
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000202503
  ensembl transcript: ENST00000365633
  gene symbol: SNORD34
  hgvsc: ENST00000365633.1:n.22A>G
  variant of: http://identifiers.org/hgnc/10161
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.342+61A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.452+61A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.195A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.425A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.534+61A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*369+61A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1113A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.220+61A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1076A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.362+61A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.25+61A>G
  variant of: http://identifiers.org/hgnc/10304
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7365
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14477
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15953
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD

19-49994183-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994183
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994183
    reference: chr 19
allele count: 1
allele frequency: 8.276501357346223e-6
allele num: 120824
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.220+62C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.426C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.534+62C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.25+62C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1077C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000202503
  ensembl transcript: ENST00000365633
  gene symbol: SNORD34
  hgvsc: ENST00000365633.1:n.23C>T
  variant of: http://identifiers.org/hgnc/10161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.362+62C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1114C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.196C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.452+62C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*369+62C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.342+62C>T
  variant of: http://identifiers.org/hgnc/10304
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14485
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15945
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12674
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

19-49994187-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994187
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994187
    reference: chr 19
allele count: 2
allele frequency: 1.655026314918407e-5
allele num: 120844
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.25+66C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1081C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.534+66C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000202503
  ensembl transcript: ENST00000365633
  gene symbol: SNORD34
  hgvsc: ENST00000365633.1:n.27C>T
  variant of: http://identifiers.org/hgnc/10161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.200C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.452+66C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.362+66C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.430C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1118C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*369+66C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.220+66C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.342+66C>T
  variant of: http://identifiers.org/hgnc/10304
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

19-49994189-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994189
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994189
    reference: chr 19
allele count: 1
allele frequency: 8.275679433281473e-6
allele num: 120836
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000202503
  ensembl transcript: ENST00000365633
  gene symbol: SNORD34
  hgvsc: ENST00000365633.1:n.29A>G
  variant of: http://identifiers.org/hgnc/10161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.202A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.452+68A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.220+68A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.25+68A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1083A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.432A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.534+68A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.342+68A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*369+68A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.362+68A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1120A>G
  variant of: http://identifiers.org/hgnc/10304
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7365
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

19-49994191-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994191
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994191
    reference: chr 19
allele count: 3
allele frequency: 2.48208760114507e-5
allele num: 120866
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.204A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.534+70A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1085A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.25+70A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.342+70A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.220+70A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*369+70A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.452+70A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1122A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000202503
  ensembl transcript: ENST00000365633
  gene symbol: SNORD34
  hgvsc: ENST00000365633.1:n.31A>G
  variant of: http://identifiers.org/hgnc/10161
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.362+70A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.434A>G
  variant of: http://identifiers.org/hgnc/10304
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP

19-49994192-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994192
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994192
    reference: chr 19
allele count: 1
allele frequency: 8.273351534706709e-6
allele num: 120870
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.342+71T>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.25+71T>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.205T>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.220+71T>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1086T>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1123T>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.435T>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.452+71T>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.362+71T>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.534+71T>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000202503
  ensembl transcript: ENST00000365633
  gene symbol: SNORD34
  hgvsc: ENST00000365633.1:n.32T>C
  variant of: http://identifiers.org/hgnc/10161
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*369+71T>C
  variant of: http://identifiers.org/hgnc/10304
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

19-49994194-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994194
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994194
    reference: chr 19
allele count: 1
allele frequency: 8.272667107875579e-6
allele num: 120880
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.220+73G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*369+73G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1088G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.207G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1125G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.452+73G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.437G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.362+73G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.342+73G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.25+73G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000202503
  ensembl transcript: ENST00000365633
  gene symbol: SNORD34
  hgvsc: ENST00000365633.1:n.34G>A
  variant of: http://identifiers.org/hgnc/10161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.534+73G>A
  variant of: http://identifiers.org/hgnc/10304
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

19-49994201-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994201
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994201
    reference: chr 19
allele count: 2
allele frequency: 1.653986106516705e-5
allele num: 120920
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.444C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000202503
  ensembl transcript: ENST00000365633
  gene symbol: SNORD34
  hgvsc: ENST00000365633.1:n.41C>T
  variant of: http://identifiers.org/hgnc/10161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1132C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1095C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*369+80C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.452+80C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.214C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.362+80C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.25+80C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.342+80C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.220+80C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.534+80C>T
  variant of: http://identifiers.org/hgnc/10304
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14651
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS

http://identifiers.org/exac.variant/19-49994201-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994201
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994201
    reference: chr 19
allele count: 1
allele frequency: 8.269930532583527e-6
allele num: 120920
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*369+80C>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.452+80C>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.534+80C>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1095C>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.214C>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000202503
  ensembl transcript: ENST00000365633
  gene symbol: SNORD34
  hgvsc: ENST00000365633.1:n.41C>A
  variant of: http://identifiers.org/hgnc/10161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.444C>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.362+80C>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.220+80C>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.25+80C>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1132C>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.342+80C>A
  variant of: http://identifiers.org/hgnc/10304
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14651
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD

19-49994202-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994202
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994202
    reference: chr 19
allele count: 1
allele frequency: 8.269656974628692e-6
allele num: 120924
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.362+81C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000202503
  ensembl transcript: ENST00000365633
  gene symbol: SNORD34
  hgvsc: ENST00000365633.1:n.42C>T
  variant of: http://identifiers.org/hgnc/10161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.534+81C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1096C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.342+81C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.445C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.220+81C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1133C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.452+81C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.215C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*369+81C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.25+81C>T
  variant of: http://identifiers.org/hgnc/10304
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

19-49994212-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994212
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994212
    reference: chr 19
allele count: 1
allele frequency: 8.263370132874991e-6
allele num: 121016
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.225C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.535-85C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1143C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1106C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000202503
  ensembl transcript: ENST00000365633
  gene symbol: SNORD34
  hgvsc: ENST00000365633.1:n.52C>T
  variant of: http://identifiers.org/hgnc/10161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.455C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*370-85C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.221-85C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.453-85C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.26-85C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.343-85C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.363-85C>T
  variant of: http://identifiers.org/hgnc/10304
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

19-49994215-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994215
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994215
    reference: chr 19
allele count: 6
allele frequency: 4.9572028156912e-5
allele num: 121036
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000202503
  ensembl transcript: ENST00000365633
  gene symbol: SNORD34
  hgvsc: ENST00000365633.1:n.55C>T
  variant of: http://identifiers.org/hgnc/10161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.535-82C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.458C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1146C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1109C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.363-82C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.343-82C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.228C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.26-82C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*370-82C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.221-82C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.453-82C>T
  variant of: http://identifiers.org/hgnc/10304
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7371
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 1
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

19-49994216-ACTGGCTGAGACG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994216
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994204
    reference: chr 19
allele count: 1
allele frequency: 8.261595148791329e-6
allele num: 121042
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000202503
  ensembl transcript: ENST00000365633
  gene symbol: SNORD34
  variant of: http://identifiers.org/hgnc/10161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  variant of: http://identifiers.org/hgnc/10304
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8086
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: ACTGGCTGAGACG
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ

19-49994225-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994225
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994225
    reference: chr 19
allele count: 1
allele frequency: 8.258456659619451e-6
allele num: 121088
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.238G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.453-72G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.468G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.343-72G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000202503
  ensembl transcript: ENST00000365633
  gene symbol: SNORD34
  hgvsc: ENST00000365633.1:n.65G>A
  variant of: http://identifiers.org/hgnc/10161
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*370-72G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.363-72G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1156G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.26-72G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1119G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.221-72G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.535-72G>A
  variant of: http://identifiers.org/hgnc/10304
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12703
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

19-49994226-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994226
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994226
    reference: chr 19
allele count: 1
allele frequency: 8.258320257659592e-6
allele num: 121090
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.363-71A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.239A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.469A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*370-71A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1157A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1120A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000202503
  ensembl transcript: ENST00000365633
  gene symbol: SNORD34
  hgvsc: ENST00000365633.1:n.66A>G
  variant of: http://identifiers.org/hgnc/10161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.26-71A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.535-71A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.453-71A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.221-71A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.343-71A>G
  variant of: http://identifiers.org/hgnc/10304
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

19-49994227-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994227
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994227
    reference: chr 19
allele count: 4
allele frequency: 3.30310987795009e-5
allele num: 121098
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.240C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.343-70C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.363-70C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.535-70C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1158C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.453-70C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*370-70C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.470C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000202503
  ensembl transcript: ENST00000365633
  gene symbol: SNORD34
  hgvsc: ENST00000365633.1:n.67C>T
  variant of: http://identifiers.org/hgnc/10161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1121C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.26-70C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.221-70C>T
  variant of: http://identifiers.org/hgnc/10304
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

19-49994228-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994228
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994228
    reference: chr 19
allele count: 29
allele frequency: 2.394715111478117e-4
allele num: 121100
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.363-69G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1159G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1122G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.26-69G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.471G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.241G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000202503
  ensembl transcript: ENST00000365633
  gene symbol: SNORD34
  hgvsc: ENST00000365633.1:n.68G>A
  variant of: http://identifiers.org/hgnc/10161
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.535-69G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*370-69G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.343-69G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.453-69G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.221-69G>A
  variant of: http://identifiers.org/hgnc/10304
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3990
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14542
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16155
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum

19-49994234-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994234
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994234
    reference: chr 19
allele count: 3
allele frequency: 2.476473501733531e-5
allele num: 121140
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*370-63C>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.343-63C>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.535-63C>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.247C>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.453-63C>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1128C>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1165C>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.363-63C>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.26-63C>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.477C>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.221-63C>G
  variant of: http://identifiers.org/hgnc/10304
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-49994236-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994236
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994236
    reference: chr 19
allele count: 1
allele frequency: 8.254094030639197e-6
allele num: 121152
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1167A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.221-61A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.249A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*370-61A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.453-61A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.479A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.343-61A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1130A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.535-61A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.26-61A>G
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.363-61A>G
  variant of: http://identifiers.org/hgnc/10304
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18713
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ

19-49994239-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994239
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994239
    reference: chr 19
allele count: 13
allele frequency: 1.072925951602786e-4
allele num: 121164
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.535-58C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.363-58C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.26-58C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1133C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.482C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.453-58C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.221-58C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1170C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*370-58C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.252C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.343-58C>T
  variant of: http://identifiers.org/hgnc/10304
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

19-49994240-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994240
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994240
    reference: chr 19
allele count: 10
allele frequency: 8.252595441266278e-5
allele num: 121174
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.483G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.221-57G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1134G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.253G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.453-57G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.535-57G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.26-57G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.343-57G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1171G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.363-57G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*370-57G>A
  variant of: http://identifiers.org/hgnc/10304
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12727
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3998
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7375
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD

19-49994241-ACCT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994241
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994238
    reference: chr 19
allele count: 2
allele frequency: 1.650519088253256e-5
allele num: 121174
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.535-52_535-50delCCT
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.453-52_453-50delCCT
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.343-52_343-50delCCT
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1176_1178delCCT
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.221-52_221-50delCCT
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.258_260delCCT
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.488_490delCCT
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.26-52_26-50delCCT
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1139_1141delCCT
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.363-52_363-50delCCT
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*370-52_*370-50delCCT
  variant of: http://identifiers.org/hgnc/10304
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4000
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14586
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: ACCT
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

19-49994246-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994246
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994246
    reference: chr 19
allele count: 1
allele frequency: 8.250961236984109e-6
allele num: 121198
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.221-51C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1140C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.535-51C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*370-51C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.453-51C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.363-51C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1177C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.489C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.343-51C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.259C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.26-51C>T
  variant of: http://identifiers.org/hgnc/10304
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4004
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14612
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

19-49994253-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994253
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994253
    reference: chr 19
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.221-44G>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.26-44G>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.266G>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1184G>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.363-44G>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.453-44G>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.535-44G>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.496G>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.343-44G>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1147G>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*370-44G>C
  variant of: http://identifiers.org/hgnc/10304
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7384
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4003
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8107
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

19-49994265-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994265
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994265
    reference: chr 19
allele count: 12
allele frequency: 9.899029895070283e-5
allele num: 121224
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.221-32C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1196C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.535-32C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.278C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1159C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.26-32C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.453-32C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.508C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.363-32C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*370-32C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.343-32C>T
  variant of: http://identifiers.org/hgnc/10304
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12756
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7397
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5003
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: C
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

19-49994266-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994266
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994266
    reference: chr 19
allele count: 4
allele frequency: 3.299785513941594e-5
allele num: 121220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.221-31G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.279G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.509G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.26-31G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1197G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.363-31G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.343-31G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.453-31G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1160G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*370-31G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.535-31G>A
  variant of: http://identifiers.org/hgnc/10304
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14515
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum

19-49994266-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994266
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994266
    reference: chr 19
allele count: 1
allele frequency: 8.249463784853985e-6
allele num: 121220
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.221-31G>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.509G>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.279G>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.343-31G>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1197G>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.363-31G>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1160G>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.26-31G>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*370-31G>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.535-31G>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.453-31G>C
  variant of: http://identifiers.org/hgnc/10304
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14515
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

19-49994267-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994267
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994267
    reference: chr 19
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1161G>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.453-30G>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.363-30G>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.26-30G>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*370-30G>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.510G>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.343-30G>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.280G>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.221-30G>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1198G>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.535-30G>C
  variant of: http://identifiers.org/hgnc/10304
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

19-49994268-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994268
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994268
    reference: chr 19
allele count: 1361
allele frequency: 1.122400171535074e-2
allele num: 121258
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.281G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.363-29G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*370-29G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.221-29G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.26-29G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1199G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.511G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.535-29G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.453-29G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.343-29G>A
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1162G>A
  variant of: http://identifiers.org/hgnc/10304
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 4.75e1
  variant carriers: 126
genotype depth: GenotypeDepth
  all individuals: 7365
  bin: 3.75e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 4.25e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 5.75e1
  variant carriers: 142
genotype depth: GenotypeDepth
  all individuals: 12581
  bin: 3.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.25e1
  variant carriers: 114
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 5.25e1
  variant carriers: 124
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 15999
  bin: 2.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 14173
  bin: 2.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 1
num of homozygotes: 90
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP

19-49994272-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994272
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994272
    reference: chr 19
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.26-25T>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.343-25T>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1166T>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.535-25T>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.285T>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.515T>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.453-25T>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*370-25T>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.221-25T>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.363-25T>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1203T>C
  variant of: http://identifiers.org/hgnc/10304
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14183
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

19-49994278-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994278
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994278
    reference: chr 19
allele count: 5
allele frequency: 4.122555324692458e-5
allele num: 121284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1209C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*370-19C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.453-19C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.343-19C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.363-19C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.291C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.521C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.26-19C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.535-19C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1172C>T
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.221-19C>T
  variant of: http://identifiers.org/hgnc/10304
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

19-49994279-CCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994279
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994277
    reference: chr 19
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.527_528delCT
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.26-13_26-12delCT
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.297_298delCT
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*370-13_*370-12delCT
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1178_1179delCT
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1215_1216delCT
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.343-13_343-12delCT
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.363-13_363-12delCT
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.535-13_535-12delCT
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.453-13_453-12delCT
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.221-13_221-12delCT
  variant of: http://identifiers.org/hgnc/10304
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7403
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16144
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2586
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: CCT
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum

19-49994281-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994281
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994281
    reference: chr 19
allele count: 19
allele frequency: 1.566571023383134e-4
allele num: 121284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*370-16T>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.26-16T>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.221-16T>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.343-16T>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.294T>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.363-16T>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.524T>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1175T>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1212T>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.535-16T>C
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.453-16T>C
  variant of: http://identifiers.org/hgnc/10304
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-49994282-CTCTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994282
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994278
    reference: chr 19
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.363-11_363-8delTTCT
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.26-11_26-8delTTCT
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.453-11_453-8delTTCT
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1217_1220delTTCT
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.343-11_343-8delTTCT
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*370-11_*370-8delTTCT
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.529_532delTTCT
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.221-11_221-8delTTCT
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.299_302delTTCT
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1180_1183delTTCT
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.535-11_535-8delTTCT
  variant of: http://identifiers.org/hgnc/10304
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12658
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16145
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18525
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: CTCTT
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

19-49994284-CTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994284
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49994282
    reference: chr 19
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000474171
  gene symbol: RPL13A
  hgvsc: ENST00000474171.1:n.299_300delTT
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470768
  ensembl transcript: ENST00000484279
  gene symbol: RPL13A
  hgvsc: ENST00000484279.1:c.*370-11_*370-10delTT
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000479992
  gene symbol: RPL13A
  hgvsc: ENST00000479992.1:n.535-11_535-10delTT
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476268
  gene symbol: RPL13A
  hgvsc: ENST00000476268.2:n.1180_1181delTT
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000472481
  gene symbol: RPL13A
  hgvsc: ENST00000472481.1:n.529_530delTT
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000468655
  gene symbol: RPL13A
  hgvsc: ENST00000468655.1:n.221-11_221-10delTT
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000375730
  ensembl transcript: ENST00000391857
  gene symbol: RPL13A
  hgvsc: ENST00000391857.4:c.343-11_343-10delTT
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000477613
  gene symbol: RPL13A
  hgvsc: ENST00000477613.2:n.453-11_453-10delTT
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000476300
  gene symbol: RPL13A
  hgvsc: ENST00000476300.1:n.26-11_26-10delTT
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142541
  ensembl transcript: ENST00000488946
  gene symbol: RPL13A
  hgvsc: ENST00000488946.1:n.1217_1218delTT
  variant of: http://identifiers.org/hgnc/10304
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142541
  ensembl protein: ENSP00000470037
  ensembl transcript: ENST00000467825
  gene symbol: RPL13A
  hgvsc: ENST00000467825.2:c.363-11_363-10delTT
  variant of: http://identifiers.org/hgnc/10304
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: CTT

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49244
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6872
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.658008658008658e-5
allele num: 11550
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507249871883761e-5
allele num: 66346
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.55e0

DP
type: SiteQuality
SIO_000300: 1.545734e6

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-2

QD
type: SiteQuality
SIO_000300: 1.102e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.96e-1

GenotypeQuality
all individuals: 5036
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8146
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2614
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11295
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 551
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 126
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5973
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 89
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3306
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18550
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509980974239725e-5
allele num: 66226
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e0

FS
type: SiteQuality
SIO_000300: 1.468e0

MQ
type: SiteQuality
SIO_000300: 5.887e1

VQSLOD
type: SiteQuality
SIO_000300: -3.307e-1

DP
type: SiteQuality
SIO_000300: 1.862503e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.84e-1

QD
type: SiteQuality
SIO_000300: 1.053e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

GenotypeQuality
all individuals: 196
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4421
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2614
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 118
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5974
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8150
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 188
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18588
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3307
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11295
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5038
bin: 8.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509844184080203e-5
allele num: 66232
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.714e0

MQ
type: SiteQuality
SIO_000300: 5.792e1

QD
type: SiteQuality
SIO_000300: 1.166e1

DP
type: SiteQuality
SIO_000300: 1.862323e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

FS
type: SiteQuality
SIO_000300: 2.273e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-2

GenotypeDepth
all individuals: 44
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 556
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5037
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2614
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11300
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 3306
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5974
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18400
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4417
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8140
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.532680627322999e-5
allele num: 66186
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 6.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.31e-1

QD
type: SiteQuality
SIO_000300: 1.329e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.96e-1

FS
type: SiteQuality
SIO_000300: 5.21e-1

DP
type: SiteQuality
SIO_000300: 1.86201e6

MQ
type: SiteQuality
SIO_000300: 5.943e1

GenotypeDepth
all individuals: 49
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 18322
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5034
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5960
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 164
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4409
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8110
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 77
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11390
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3306
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2605
bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66174
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.940240589833139e-4
allele num: 10308
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.59e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.13e0

VQSLOD
type: SiteQuality
SIO_000300: 5.96e0

QD
type: SiteQuality
SIO_000300: 1.284e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.868761e6

GenotypeDepth
all individuals: 38
bin: 8.75e1
variant carriers: 7

GenotypeDepth
all individuals: 1037
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 194
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5034
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5960
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18322
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 73
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2605
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4409
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3306
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8110
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11390
bin: 9.75e1
variant carriers: 111

GenotypeQuality
all individuals: 233
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 26
allele frequency: 3.92903557288361e-4
allele num: 66174
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.596952908587258e-4
allele num: 11552
num of homozygotes: 0

South Asian
type: Population
allele count: 82
allele frequency: 4.968492486669899e-3
allele num: 16504
num of homozygotes: 2

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

African
type: Population
allele count: 2
allele frequency: 1.940240589833139e-4
allele num: 10308
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.56e-1

QD
type: SiteQuality
SIO_000300: 1.284e1

VQSLOD
type: SiteQuality
SIO_000300: 5.96e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.13e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-2

DP
type: SiteQuality
SIO_000300: 1.868761e6

GenotypeDepth
all individuals: 14517
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8095
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5967
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18243
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11350
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 242
bin: 3.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.023065993530639e-5
allele num: 66158
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

MQ
type: SiteQuality
SIO_000300: 5.953e1

QD
type: SiteQuality
SIO_000300: 1.293e1

DP
type: SiteQuality
SIO_000300: 1.862876e6

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

MQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

FS
type: SiteQuality
SIO_000300: 2.452e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e-1

GenotypeDepth
all individuals: 77
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 76
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variant carriers: 0

GenotypeQuality
all individuals: 604
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GenotypeQuality
all individuals: 4412
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5966
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variant carriers: 0

GenotypeQuality
all individuals: 8094
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2608
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5038
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11349
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511441613010489e-5
allele num: 66162
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.53e-1

QD
type: SiteQuality
SIO_000300: 1.205e1

VQSLOD
type: SiteQuality
SIO_000300: -5.831e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

FS
type: SiteQuality
SIO_000300: 4.662e0

DP
type: SiteQuality
SIO_000300: 1.862721e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e-1

GenotypeDepth
all individuals: 16136
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 126
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4412
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11351
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 191
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5038
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
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variant carriers: 0

GenotypeQuality
all individuals: 8092
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5966
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
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GenotypeQuality
all individuals: 18196
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variant carriers: 0

GenotypeQuality
all individuals: 3313
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2607
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variant carriers: 0

GenotypeQuality
all individuals: 123
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variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.023248783142365e-5
allele num: 66154
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.72e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.25e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

DP
type: SiteQuality
SIO_000300: 1.862929e6

MQ
type: SiteQuality
SIO_000300: 5.981e1

QD
type: SiteQuality
SIO_000300: 1.402e1

GenotypeQuality
all individuals: 3220
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5799
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 77
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variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7917
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12501
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variant carriers: 1461

GenotypeQuality
all individuals: 175
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 27
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GenotypeQuality
all individuals: 4911
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variant carriers: 0

GenotypeQuality
all individuals: 94
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variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 3.25e1
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GenotypeQuality
all individuals: 2530
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17910
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4301
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 4.75e1
variant carriers: 1

African
type: Population
allele count: 27
allele frequency: 2.619324796274738e-3
allele num: 10308
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 212
allele frequency: 3.206291591046582e-2
allele num: 6612
num of homozygotes: 3

European (Non-Finnish)
type: Population
allele count: 1154
allele frequency: 1.744361811475905e-2
allele num: 66156
num of homozygotes: 8

South Asian
type: Population
allele count: 45
allele frequency: 2.726281352235551e-3
allele num: 16506
num of homozygotes: 1

Latino
type: Population
allele count: 26
allele frequency: 2.251082251082251e-3
allele num: 11550
num of homozygotes: 0

Other
type: Population
allele count: 13
allele frequency: 1.441241685144124e-2
allele num: 902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.952877e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.18e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.255e0

QD
type: SiteQuality
SIO_000300: 1.242e1

VQSLOD
type: SiteQuality
SIO_000300: 5.72e0

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4995
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variant carriers: 0

GenotypeQuality
all individuals: 10
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GenotypeQuality
all individuals: 40
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GenotypeQuality
all individuals: 12008
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variant carriers: 30

GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 607
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GenotypeQuality
all individuals: 7998
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variant carriers: 0

GenotypeQuality
all individuals: 64
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variant carriers: 0

GenotypeQuality
all individuals: 18068
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2571
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variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5859
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variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4336
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.022791850553171e-5
allele num: 66164
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.731002250302925e-4
allele num: 11554
num of homozygotes: 0

African
type: Population
allele count: 26
allele frequency: 2.52476208972616e-3
allele num: 10298
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.891683e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.97e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

VQSLOD
type: SiteQuality
SIO_000300: 5.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

QD
type: SiteQuality
SIO_000300: 1.326e1

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 76
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variant carriers: 0

GenotypeQuality
all individuals: 18050
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 37
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variant carriers: 0

GenotypeQuality
all individuals: 13
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GenotypeQuality
all individuals: 207
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GenotypeQuality
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GenotypeQuality
all individuals: 71
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 8002
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variant carriers: 0

GenotypeQuality
all individuals: 4335
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11995
bin: 9.75e1
variant carriers: 3

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511258878645912e-5
allele num: 66170
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.714396735962697e-5
allele num: 10294
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

QD
type: SiteQuality
SIO_000300: 1.39e1

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

FS
type: SiteQuality
SIO_000300: 5.07e-1

DP
type: SiteQuality
SIO_000300: 1.890998e6

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

GenotypeDepth
all individuals: 144
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
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variant carriers: 0

GenotypeQuality
all individuals: 18150
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GenotypeQuality
all individuals: 236
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4999
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 28
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GenotypeQuality
all individuals: 57
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 8005
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2573
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66166
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211827435773146e-4
allele num: 16504
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-2

QD
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SIO_000300: 1.285e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

BaseQRankSum
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SIO_000300: -5.045e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

DP
type: SiteQuality
SIO_000300: 1.891454e6

VQSLOD
type: SiteQuality
SIO_000300: 9.22e-1

FS
type: SiteQuality
SIO_000300: 5.589e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

GenotypeDepth
all individuals: 383
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

GenotypeQuality
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GenotypeQuality
all individuals: 4333
bin: 7.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66170
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.308e1

FS
type: SiteQuality
SIO_000300: 2.271e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-1

InbreedingCoeff
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SIO_000300: 5.1e-3

DP
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BaseQRankSum
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SIO_000300: -5.024e0

MQRankSum
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SIO_000300: 1.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.37e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

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

African
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allele count: 1
allele frequency: 9.720062208398134e-5
allele num: 10288
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66178
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8624
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

MQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

QD
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ReadPosRankSum
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SIO_000300: 2.63e0

BaseQRankSum
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SIO_000300: 3.95e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.75e-1

FS
type: SiteQuality
SIO_000300: 1.69e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 1.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.891389e6

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 99

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 5
allele frequency: 4.327505625757314e-4
allele num: 11554
num of homozygotes: 0

African
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allele count: 92
allele frequency: 8.940719144800777e-3
allele num: 10290
num of homozygotes: 1

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.022700480609376e-5
allele num: 66166
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.43e-1

QD
type: SiteQuality
SIO_000300: 1.31e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.737e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

FS
type: SiteQuality
SIO_000300: 5.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.97e0

DP
type: SiteQuality
SIO_000300: 1.891163e6

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
all individuals: 75
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66166
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.718172983479106e-5
allele num: 10290
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 5.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

QD
type: SiteQuality
SIO_000300: 1.31e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.43e-1

DP
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SIO_000300: 1.891163e6

BaseQRankSum
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SIO_000300: -2.737e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.97e0

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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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.511395925276585e-5
allele num: 66164
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.829e0

QD
type: SiteQuality
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MQRankSum
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BaseQRankSum
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DP
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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SIO_000300: 5.953e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66172
num of homozygotes: 0

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

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

South Asian
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allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

Latino
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East Asian
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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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10272
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

Other
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

DP
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VQSLOD
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MQ
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QD
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FS
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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bin: 8.75e1
variant carriers: 0

East Asian
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allele count: 1
allele frequency: 1.159017153453871e-4
allele num: 8628
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66172
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

QD
type: SiteQuality
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MQ
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ReadPosRankSum
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SIO_000300: 1.37e0

FS
type: SiteQuality
SIO_000300: 3.109e0

InbreedingCoeff
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SIO_000300: -2.0e-4

VQSLOD
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MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

DP
type: SiteQuality
SIO_000300: 1.888682e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.627e0

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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variant carriers: 4

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510984859931704e-5
allele num: 66182
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.738994935722633e-5
allele num: 10268
num of homozygotes: 0

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

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

VQSLOD
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SIO_000300: 3.39e0

ClippingRankSum
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FS
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SIO_000300: 1.113e0

BaseQRankSum
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SIO_000300: 4.95e-1

DP
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SIO_000300: 1.888919e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.29e-1

QD
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SIO_000300: 1.291e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511167528032158e-5
allele num: 66174
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.742790335151988e-5
allele num: 10264
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 7.77e-1

FS
type: SiteQuality
SIO_000300: 1.207e0

BaseQRankSum
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SIO_000300: 2.03e0

QD
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SIO_000300: 1.214e1

InbreedingCoeff
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SIO_000300: -1.0e-4

MQRankSum
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SIO_000300: -2.9e-1

ReadPosRankSum
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SIO_000300: 1.59e0

ClippingRankSum
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SIO_000300: -1.552e0

MQ
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SIO_000300: 5.957e1

DP
type: SiteQuality
SIO_000300: 1.888955e6

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66204
num of homozygotes: 0

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

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

East Asian
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allele count: 2
allele frequency: 2.31696014828545e-4
allele num: 8632
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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MQ
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SIO_000300: 6.0e1

MQRankSum
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FS
type: SiteQuality
SIO_000300: 2.366e0

QD
type: SiteQuality
SIO_000300: 1.378e1

DP
type: SiteQuality
SIO_000300: 1.889537e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510300247689241e-5
allele num: 66212
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.738994935722633e-5
allele num: 10268
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

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

Latino
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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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ClippingRankSum
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SIO_000300: -3.09e-1

InbreedingCoeff
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ReadPosRankSum
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DP
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MQRankSum
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FS
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MQ
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VQSLOD
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BaseQRankSum
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QD
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SIO_000300: 1.392e1

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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bin: 8.75e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.020600495378481e-5
allele num: 66212
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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ClippingRankSum
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ReadPosRankSum
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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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QD
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MQ
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DP
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SIO_000300: 1.889534e6

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66218
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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Latino
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Other
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South Asian
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allele frequency: 3.63460140537921e-4
allele num: 16508
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QD
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ClippingRankSum
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FS
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MQ
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ReadPosRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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BaseQRankSum
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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: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
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
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510026576467746e-5
allele num: 66224
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10258
num of homozygotes: 0

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

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

VQSLOD
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SIO_000300: -8.1e-2

FS
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SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: 5.54e-1

BaseQRankSum
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SIO_000300: -3.628e0

ReadPosRankSum
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SIO_000300: -7.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.19e-1

QD
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SIO_000300: 1.556e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

DP
type: SiteQuality
SIO_000300: 1.890019e6

MQ
type: SiteQuality
SIO_000300: 5.915e1

GenotypeDepth
all individuals: 68
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18099
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 4996
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.509570678099149e-5
allele num: 66244
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10264
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.83e0

BaseQRankSum
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SIO_000300: 6.860000000000001e-1

MQRankSum
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SIO_000300: 3.62e-1

MQ
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SIO_000300: 5.959e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e-2

FS
type: SiteQuality
SIO_000300: 1.114e0

QD
type: SiteQuality
SIO_000300: 1.158e1

DP
type: SiteQuality
SIO_000300: 1.890828e6

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.018321209743141e-5
allele num: 66262
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

African
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allele count: 4
allele frequency: 3.897116134060795e-4
allele num: 10264
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-2

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.958e1

FS
type: SiteQuality
SIO_000300: 5.2e-1

InbreedingCoeff
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SIO_000300: -3.0e-4

MQRankSum
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SIO_000300: 8.179999999999999e-1

DP
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SIO_000300: 1.891682e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.69e-1

QD
type: SiteQuality
SIO_000300: 1.206e1

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10254
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.017319413433106e-5
allele num: 66284
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.982e1

MQRankSum
type: SiteQuality
SIO_000300: -1.265e0

DP
type: SiteQuality
SIO_000300: 1.893091e6

ReadPosRankSum
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SIO_000300: 3.18e-1

FS
type: SiteQuality
SIO_000300: 1.1439e1

InbreedingCoeff
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SIO_000300: 4.0e-4

VQSLOD
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SIO_000300: -1.44e0

BaseQRankSum
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SIO_000300: 3.47e0

QD
type: SiteQuality
SIO_000300: 1.509e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.82e-1

GenotypeDepth
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variant carriers: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Non-Finnish)
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allele count: 16
allele frequency: 2.413491417021148e-4
allele num: 66294
num of homozygotes: 0

Latino
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allele count: 3
allele frequency: 2.595155709342561e-4
allele num: 11560
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

South Asian
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allele count: 26
allele frequency: 1.57537566650509e-3
allele num: 16504
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.05e0

InbreedingCoeff
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FS
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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QD
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MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
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SIO_000300: 1.895457e6

GenotypeDepth
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variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

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

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

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

Other
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South Asian
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allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66318
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VQSLOD
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MQ
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FS
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DP
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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QD
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

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

African
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allele count: 1
allele frequency: 9.737098344693281e-5
allele num: 10270
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

Latino
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allele count: 3
allele frequency: 2.595155709342561e-4
allele num: 11560
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507477086348288e-5
allele num: 66336
num of homozygotes: 0

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

South Asian
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African
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Other
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Latino
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num of homozygotes: 0

InbreedingCoeff
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VQSLOD
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FS
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QD
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DP
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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SIO_000300: -1.035e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 230
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5861
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 131
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8048
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2577
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4345
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4994
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3311
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18512
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12002
bin: 9.75e1
variant carriers: 2

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.014227152158187e-5
allele num: 66352
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.414e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

FS
type: SiteQuality
SIO_000300: 3.392e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

QD
type: SiteQuality
SIO_000300: 1.876e1

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.08e-2

DP
type: SiteQuality
SIO_000300: 1.895964e6

GenotypeDepth
all individuals: 12679
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4993
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5861
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.25e1
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
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12002
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3310
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507295309296997e-5
allele num: 66344
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

FS
type: SiteQuality
SIO_000300: 9.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-2

QD
type: SiteQuality
SIO_000300: 8.789999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.72e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

VQSLOD
type: SiteQuality
SIO_000300: 1.8e-1

DP
type: SiteQuality
SIO_000300: 1.896288e6

GenotypeDepth
all individuals: 141
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18573
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 3310
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8053
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 450
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 118
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GenotypeQuality
all individuals: 12004
bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4994
bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.013591296748335e-5
allele num: 66366
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 6.919999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

QD
type: SiteQuality
SIO_000300: 1.272e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

FS
type: SiteQuality
SIO_000300: 4.042e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-2

DP
type: SiteQuality
SIO_000300: 1.896973e6

GenotypeDepth
all individuals: 665
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 18547
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variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3310
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 77
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 2578
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4993
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5862
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4347
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66368
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.896909e6

FS
type: SiteQuality
SIO_000300: 2.152e0

VQSLOD
type: SiteQuality
SIO_000300: -2.841e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.48e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.63e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.86e-1

QD
type: SiteQuality
SIO_000300: 1.759e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 56
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variant carriers: 0

GenotypeQuality
all individuals: 41
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 18592
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 425
bin: 2.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66380
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.981e1

QD
type: SiteQuality
SIO_000300: 1.088e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.896e0

VQSLOD
type: SiteQuality
SIO_000300: 8.3e-2

DP
type: SiteQuality
SIO_000300: 1.897447e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.07e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66412
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

East Asian
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
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num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 902
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.03e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66412
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

BaseQRankSum
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.898338e6

ReadPosRankSum
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MQRankSum
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VQSLOD
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MQ
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SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.03e-1

QD
type: SiteQuality
SIO_000300: 1.224e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 9
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12005
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66418
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

QD
type: SiteQuality
SIO_000300: 1.24e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

FS
type: SiteQuality
SIO_000300: 1.271e0

DP
type: SiteQuality
SIO_000300: 1.89824e6

GenotypeDepth
all individuals: 3983
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4343
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12006
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504121292341014e-5
allele num: 66484
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.893e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.55e-1

QD
type: SiteQuality
SIO_000300: 9.960000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.327e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

VQSLOD
type: SiteQuality
SIO_000300: -9.071e-1

DP
type: SiteQuality
SIO_000300: 1.899571e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

GenotypeDepth
all individuals: 112
bin: 7.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 82
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
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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: 8.75e1
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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66496
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.63460140537921e-4
allele num: 16508
num of homozygotes: 1

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.972e1

DP
type: SiteQuality
SIO_000300: 1.899978e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e-1

BaseQRankSum
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SIO_000300: -2.727e0

FS
type: SiteQuality
SIO_000300: 1.753e0

QD
type: SiteQuality
SIO_000300: 1.577e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.33e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.26e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.04e-1

GenotypeQuality
all individuals: 1
bin: 2.5e0
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: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5000
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503668952243474e-5
allele num: 66504
num of homozygotes: 0

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.055e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -6.543e0

QD
type: SiteQuality
SIO_000300: 3.26e0

DP
type: SiteQuality
SIO_000300: 1.90005e6

MQ
type: SiteQuality
SIO_000300: 5.039e1

GenotypeDepth
all individuals: 103
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 96
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variant carriers: 0

GenotypeQuality
all individuals: 82
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8101
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18619
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66534
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.39e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.90087e6

MQRankSum
type: SiteQuality
SIO_000300: -2.37e-1

QD
type: SiteQuality
SIO_000300: 1.189e1

BaseQRankSum
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SIO_000300: -2.086e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 9.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.0e-2

GenotypeDepth
all individuals: 56
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66532
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.86e-1

VQSLOD
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DP
type: SiteQuality
SIO_000300: 1.900878e6

BaseQRankSum
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 12016
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 8100
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.011241020708725e-5
allele num: 66542
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.24e-1

FS
type: SiteQuality
SIO_000300: 4.59e-1

ClippingRankSum
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BaseQRankSum
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MQRankSum
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DP
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SIO_000300: 1.901144e6

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.5e-2

MQ
type: SiteQuality
SIO_000300: 5.869e1

GenotypeDepth
all individuals: 55
bin: 9.25e1
variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 29

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5
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GenotypeQuality
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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: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4345
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
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allele count: 26
allele frequency: 3.907189228179851e-4
allele num: 66544
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

African
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allele count: 2
allele frequency: 1.939111886755866e-4
allele num: 10314
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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ClippingRankSum
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SIO_000300: -3.08e-1

MQ
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SIO_000300: 5.962e1

DP
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BaseQRankSum
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SIO_000300: 5.13e-1

InbreedingCoeff
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SIO_000300: 0.0e0

MQRankSum
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SIO_000300: 4.33e-1

VQSLOD
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QD
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FS
type: SiteQuality
SIO_000300: 1.725e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10316
num of homozygotes: 0

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

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

East Asian
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allele frequency: 3.469812630117973e-4
allele num: 8646
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Other
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66580
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South Asian
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allele frequency: 0.0e0
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MQ
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BaseQRankSum
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DP
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SIO_000300: 1.90293e6

MQRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: -1.0e-4

FS
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SIO_000300: 3.094e0

QD
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ClippingRankSum
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SIO_000300: -8.8e-1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501726986033939e-5
allele num: 66590
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African
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.7e-2

VQSLOD
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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SIO_000300: -2.0e-4

FS
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DP
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SIO_000300: 1.903293e6

QD
type: SiteQuality
SIO_000300: 1.319e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.11e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 52
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variant carriers: 0

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

African
type: Population
allele count: 9
allele frequency: 8.720930232558139e-4
allele num: 10320
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.003003003003003e-5
allele num: 66600
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East Asian
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Other
type: Population
allele count: 0
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allele num: 904
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FS
type: SiteQuality
SIO_000300: 5.32e-1

BaseQRankSum
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SIO_000300: 1.69e0

DP
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SIO_000300: 1.904345e6

ReadPosRankSum
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SIO_000300: 9.65e-1

MQRankSum
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SIO_000300: 3.13e-1

InbreedingCoeff
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SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.75e-1

VQSLOD
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SIO_000300: 3.16e0

QD
type: SiteQuality
SIO_000300: 1.249e1

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2
allele frequency: 2.313208420078649e-4
allele num: 8646
num of homozygotes: 0

Other
type: Population
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Latino
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allele count: 4
allele frequency: 3.456619426201175e-4
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.504233979941145e-5
allele num: 66604
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South Asian
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African
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allele count: 1
allele frequency: 9.68429207824908e-5
allele num: 10326
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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MQRankSum
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SIO_000300: 4.9e-2

BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 5.28e-1

ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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VQSLOD
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele num: 11572
num of homozygotes: 0

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

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

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

African
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16508
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.002822653294096e-5
allele num: 66604
num of homozygotes: 0

DP
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SIO_000300: 1.904893e6

QD
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BaseQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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MQ
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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African
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Other
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European (Finnish)
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European (Non-Finnish)
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allele num: 66622
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ReadPosRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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MQRankSum
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FS
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ClippingRankSum
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QD
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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European (Non-Finnish)
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European (Finnish)
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African
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Latino
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South Asian
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FS
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QD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8083
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 125
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 5.25e1
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GenotypeQuality
all individuals: 3316
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5869
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4342
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18649
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12072
bin: 9.75e1
variant carriers: 12

East Asian
type: Population
allele count: 9
allele frequency: 1.040943789035392e-3
allele num: 8646
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001110410852015e-5
allele num: 66642
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.67305088024763e-5
allele num: 10338
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.907563e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 5.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-1

QD
type: SiteQuality
SIO_000300: 1.397e1

VQSLOD
type: SiteQuality
SIO_000300: 3.65e0

MQRankSum
type: SiteQuality
SIO_000300: 2.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

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

GenotypeQuality
all individuals: 12075
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 8087
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3315
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18684
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5862
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2589
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001110410852015e-5
allele num: 66642
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 2
allele frequency: 1.934984520123839e-4
allele num: 10336
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.101e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.7e-2

QD
type: SiteQuality
SIO_000300: 1.475e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.58e-1

MQ
type: SiteQuality
SIO_000300: 5.987e1

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

DP
type: SiteQuality
SIO_000300: 1.907947e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.04e-1

GenotypeQuality
all individuals: 3315
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5008
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4344
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18684
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
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GenotypeQuality
all individuals: 5862
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variant carriers: 0

GenotypeQuality
all individuals: 67
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variant carriers: 0

GenotypeQuality
all individuals: 100
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GenotypeQuality
all individuals: 8087
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variant carriers: 0

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

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

GenotypeQuality
all individuals: 68
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variant carriers: 0

GenotypeQuality
all individuals: 12075
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 88
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2589
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 4.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500555205426008e-5
allele num: 66642
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.907947e6

MQ
type: SiteQuality
SIO_000300: 5.987e1

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

QD
type: SiteQuality
SIO_000300: 1.475e1

FS
type: SiteQuality
SIO_000300: 1.101e0

MQRankSum
type: SiteQuality
SIO_000300: -4.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.56e-1

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

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18794
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variant carriers: 0

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

GenotypeQuality
all individuals: 57
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5010
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12079
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 59
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3316
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4350
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2592
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8111
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5872
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 88
bin: 4.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.402e0

FS
type: SiteQuality
SIO_000300: 2.12e0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

VQSLOD
type: SiteQuality
SIO_000300: -2.146e-1

QD
type: SiteQuality
SIO_000300: 1.343e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.124e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.945e1

DP
type: SiteQuality
SIO_000300: 1.908006e6

GenotypeQuality
all individuals: 7941
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 54
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4260
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4930
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2553
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3265
bin: 9.25e1
variant carriers: 5

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 5762
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 81
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13106
bin: 9.75e1
variant carriers: 1254

GenotypeQuality
all individuals: 18317
bin: 6.25e1
variant carriers: 1

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

South Asian
type: Population
allele count: 4
allele frequency: 2.42306760358614e-4
allele num: 16508
num of homozygotes: 0

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

Other
type: Population
allele count: 4
allele frequency: 4.424778761061947e-3
allele num: 904
num of homozygotes: 0

African
type: Population
allele count: 1276
allele frequency: 1.233326889619177e-1
allele num: 10346
num of homozygotes: 89

Latino
type: Population
allele count: 46
allele frequency: 3.974425436322792e-3
allele num: 11574
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 30
allele frequency: 4.5004500450045e-4
allele num: 66660
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.29e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.919e0

QD
type: SiteQuality
SIO_000300: 1.56e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.195e-1

FS
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 1.946341e6

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

GenotypeQuality
all individuals: 7998
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 80
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variant carriers: 0

GenotypeQuality
all individuals: 60
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variant carriers: 0

GenotypeQuality
all individuals: 37
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variant carriers: 0

GenotypeQuality
all individuals: 4975
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variant carriers: 0

GenotypeQuality
all individuals: 54
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12723
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5807
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variant carriers: 0

GenotypeQuality
all individuals: 18489
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
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variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2582
bin: 8.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66674
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

MQ
type: SiteQuality
SIO_000300: 5.991e1

VQSLOD
type: SiteQuality
SIO_000300: -4.608e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 3.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.96e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.775e0

DP
type: SiteQuality
SIO_000300: 1.936937e6

QD
type: SiteQuality
SIO_000300: 1.206e1

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 18520
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 62
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variant carriers: 0

GenotypeQuality
all individuals: 48
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variant carriers: 0

GenotypeQuality
all individuals: 41
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variant carriers: 0

GenotypeQuality
all individuals: 5812
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12729
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 104
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2585
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4294
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3307
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 5
allele frequency: 5.78168362627197e-4
allele num: 8648
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.961e1

FS
type: SiteQuality
SIO_000300: 5.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.212e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

MQRankSum
type: SiteQuality
SIO_000300: -4.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.243e0

DP
type: SiteQuality
SIO_000300: 1.938065e6

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 49
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 40
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3307
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12729
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.64e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.068e0

FS
type: SiteQuality
SIO_000300: 8.685e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

DP
type: SiteQuality
SIO_000300: 1.938195e6

QD
type: SiteQuality
SIO_000300: 2.015e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18493
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4983
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 50
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4296
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8006
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3306
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2586
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5814
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12744
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 101
bin: 2.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

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

Latino
type: Population
allele count: 19
allele frequency: 1.641894227445558e-3
allele num: 11572
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 5.22e-1

DP
type: SiteQuality
SIO_000300: 1.938978e6

QD
type: SiteQuality
SIO_000300: 1.45e1

MQ
type: SiteQuality
SIO_000300: 5.957e1

VQSLOD
type: SiteQuality
SIO_000300: 2.39e0

MQRankSum
type: SiteQuality
SIO_000300: 1.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e0

GenotypeQuality
all individuals: 73
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5813
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3308
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4295
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2586
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4985
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8001
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12741
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

FS
type: SiteQuality
SIO_000300: 2.817e0

QD
type: SiteQuality
SIO_000300: 2.52e1

DP
type: SiteQuality
SIO_000300: 1.938918e6

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

MQ
type: SiteQuality
SIO_000300: 5.801e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -8.159999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4