8-11708329-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708329
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708329
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 55176
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.410+46A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.327+46A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.327+46A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.327+46A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.381A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.327+46A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.327+46A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.327+46A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.327+46A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.327+46A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.327+46A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.327+46A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.327+46A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.327+46A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.327+46A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.327+46A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.327+46A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.327+46A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.327+46A>G
  variant of: http://identifiers.org/hgnc/2527
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 26753
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

8-11708334-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708334
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708334
    reference: chr 8
allele count: 1
allele frequency: 1.754693805930865e-5
allele num: 56990
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.327+41G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.376G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.327+41G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.327+41G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.327+41G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.327+41G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.327+41G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.327+41G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.327+41G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.327+41G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.327+41G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.327+41G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.327+41G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.327+41G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.327+41G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.327+41G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.410+41G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.327+41G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.327+41G>A
  variant of: http://identifiers.org/hgnc/2527
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

8-11708334-CTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708334
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708332
    reference: chr 8
allele count: 7
allele frequency: 1.228285664151606e-4
allele num: 56990
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.327+39_327+40delAA
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.410+39_410+40delAA
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.327+39_327+40delAA
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.327+39_327+40delAA
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.327+39_327+40delAA
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.327+39_327+40delAA
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.327+39_327+40delAA
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.327+39_327+40delAA
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.374_375delAA
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.327+39_327+40delAA
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.327+39_327+40delAA
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.327+39_327+40delAA
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.327+39_327+40delAA
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.327+39_327+40delAA
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.327+39_327+40delAA
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.327+39_327+40delAA
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.327+39_327+40delAA
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.327+39_327+40delAA
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.327+39_327+40delAA
  variant of: http://identifiers.org/hgnc/2527
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
reference allele: CTT
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

8-11708345-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708345
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708345
    reference: chr 8
allele count: 1
allele frequency: 1.6178088397075e-5
allele num: 61812
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.327+30C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.327+30C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.327+30C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.327+30C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.327+30C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.365C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.327+30C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.327+30C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.327+30C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.410+30C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.327+30C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.327+30C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.327+30C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.327+30C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.327+30C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.327+30C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.327+30C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.327+30C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.327+30C>G
  variant of: http://identifiers.org/hgnc/2527
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26744
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

8-11708346-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708346
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708346
    reference: chr 8
allele count: 7
allele frequency: 1.126271077358733e-4
allele num: 62152
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.327+29G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.327+29G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.410+29G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.327+29G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.327+29G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.327+29G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.327+29G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.327+29G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.327+29G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.327+29G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.327+29G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.364G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.327+29G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.327+29G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.327+29G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.327+29G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.327+29G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.327+29G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.327+29G>A
  variant of: http://identifiers.org/hgnc/2527
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12083
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

8-11708347-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708347
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708347
    reference: chr 8
allele count: 5
allele frequency: 7.738261057975052e-5
allele num: 64614
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.327+28C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.327+28C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.327+28C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.327+28C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.410+28C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.327+28C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.327+28C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.327+28C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.363C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.327+28C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.327+28C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.327+28C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.327+28C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.327+28C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.327+28C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.327+28C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.327+28C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.327+28C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.327+28C>T
  variant of: http://identifiers.org/hgnc/2527
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum

8-11708353-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708353
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708353
    reference: chr 8
allele count: 1
allele frequency: 1.398797034550287e-5
allele num: 71490
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.327+22G>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.410+22G>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.327+22G>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.327+22G>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.357G>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.327+22G>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.327+22G>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.327+22G>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.327+22G>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.327+22G>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.327+22G>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.327+22G>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.327+22G>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.327+22G>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.327+22G>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.327+22G>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.327+22G>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.327+22G>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.327+22G>C
  variant of: http://identifiers.org/hgnc/2527
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9442
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/8-11708354-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708354
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708354
    reference: chr 8
allele count: 1
allele frequency: 1.377638177109164e-5
allele num: 72588
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.327+21G>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.327+21G>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.327+21G>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.327+21G>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.327+21G>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.327+21G>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.410+21G>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.356G>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.327+21G>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.327+21G>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.327+21G>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.327+21G>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.327+21G>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.327+21G>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.327+21G>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.327+21G>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.327+21G>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.327+21G>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.327+21G>T
  variant of: http://identifiers.org/hgnc/2527
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22752
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

8-11708354-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708354
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708354
    reference: chr 8
allele count: 10
allele frequency: 1.377638177109164e-4
allele num: 72588
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.327+21G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.410+21G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.327+21G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.356G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.327+21G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.327+21G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.327+21G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.327+21G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.327+21G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.327+21G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.327+21G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.327+21G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.327+21G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.327+21G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.327+21G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.327+21G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.327+21G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.327+21G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.327+21G>A
  variant of: http://identifiers.org/hgnc/2527
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

8-11708355-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708355
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708355
    reference: chr 8
allele count: 39683
allele frequency: 4.173467670691178e-1
allele num: 95084
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.327+20C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.327+20C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.327+20C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.327+20C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.327+20C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.327+20C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.327+20C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.327+20C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.327+20C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.355C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.327+20C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.327+20C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.410+20C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.327+20C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.327+20C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.327+20C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.327+20C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.327+20C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.327+20C>T
  variant of: http://identifiers.org/hgnc/2527
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10916
  bin: 7.5e0
  variant carriers: 1927
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.75e1
  variant carriers: 306
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 80
genotype quality: GenotypeQuality
num of homozygotes: 7042
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum

8-11708364-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708364
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708364
    reference: chr 8
allele count: 8
allele frequency: 7.763372408974459e-5
allele num: 103048
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.327+11G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.327+11G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.327+11G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.327+11G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.327+11G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.346G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.327+11G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.327+11G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.327+11G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.327+11G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.327+11G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.327+11G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.327+11G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.410+11G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.327+11G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.327+11G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.327+11G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.327+11G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.327+11G>A
  variant of: http://identifiers.org/hgnc/2527
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21376
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

8-11708365-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708365
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708365
    reference: chr 8
allele count: 483
allele frequency: 4.647090517241379e-3
allele num: 103936
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.327+10T>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.327+10T>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.327+10T>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.327+10T>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.345T>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.327+10T>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.327+10T>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.327+10T>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.327+10T>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.327+10T>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.327+10T>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.327+10T>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.327+10T>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.327+10T>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.327+10T>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.410+10T>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.327+10T>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.327+10T>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.327+10T>A
  variant of: http://identifiers.org/hgnc/2527
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
num of homozygotes: 9
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

8-11708366-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708366
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708366
    reference: chr 8
allele count: 13
allele frequency: 1.24537773264614e-4
allele num: 104386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.327+9C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.327+9C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.410+9C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.327+9C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.327+9C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.344C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.327+9C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.327+9C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.327+9C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.327+9C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.327+9C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.327+9C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.327+9C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.327+9C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.327+9C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.327+9C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.327+9C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.327+9C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.327+9C>T
  variant of: http://identifiers.org/hgnc/2527
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

8-11708367-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708367
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708367
    reference: chr 8
allele count: 1
allele frequency: 9.533615528352973e-6
allele num: 104892
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.327+8C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.327+8C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.327+8C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.327+8C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.327+8C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.327+8C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.410+8C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.327+8C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.327+8C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.327+8C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.327+8C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.327+8C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.343C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.327+8C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.327+8C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.327+8C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.327+8C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.327+8C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.327+8C>T
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.327+8C>T
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

8-11708368-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708368
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708368
    reference: chr 8
allele count: 4
allele frequency: 3.806768434276143e-5
allele num: 105076
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.327+7C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.327+7C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.327+7C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.327+7C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.327+7C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.327+7C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.327+7C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.327+7C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.327+7C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.342C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.327+7C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.327+7C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.327+7C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.327+7C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.410+7C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.327+7C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.327+7C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.327+7C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.327+7C>T
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.327+7C>T
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum

8-11708369-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708369
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708369
    reference: chr 8
allele count: 2
allele frequency: 1.896345741755637e-5
allele num: 105466
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.327+6G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.327+6G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.327+6G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.327+6G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.327+6G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.327+6G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.327+6G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.327+6G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.327+6G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.327+6G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.327+6G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.410+6G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.341G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.327+6G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.327+6G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.327+6G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.327+6G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.327+6G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.327+6G>A
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.327+6G>A
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

8-11708371-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708371
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708371
    reference: chr 8
allele count: 1
allele frequency: 9.396553344233335e-6
allele num: 106422
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.327+4A>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.327+4A>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.327+4A>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.327+4A>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.327+4A>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.327+4A>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.327+4A>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.327+4A>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.410+4A>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.327+4A>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.327+4A>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.327+4A>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.327+4A>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.339A>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.327+4A>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.327+4A>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.327+4A>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.327+4A>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.327+4A>T
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.327+4A>T
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

8-11708375-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708375
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708375
    reference: chr 8
allele count: 1
allele frequency: 9.263204698297423e-6
allele num: 107954
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.327G>C
  hgvsp: ENSP00000434725.1:p.Trp109Cys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.327G>C
  hgvsp: ENSP00000411254.2:p.Trp109Cys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.327G>C
  hgvsp: ENSP00000415889.1:p.Trp109Cys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.327G>C
  hgvsp: ENSP00000436159.1:p.Trp109Cys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.327G>C
  hgvsp: ENSP00000435105.1:p.Trp109Cys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.327G>C
  hgvsp: ENSP00000345672.5:p.Trp109Cys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.335G>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.327G>C
  hgvsp: ENSP00000435074.1:p.Trp109Cys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.327G>C
  hgvsp: ENSP00000432244.1:p.Trp109Cys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.327G>C
  hgvsp: ENSP00000431518.1:p.Trp109Cys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.327G>C
  hgvsp: ENSP00000434217.1:p.Trp109Cys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.327G>C
  hgvsp: ENSP00000409917.2:p.Trp109Cys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.327G>C
  hgvsp: ENSP00000433995.1:p.Trp109Cys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.327G>C
  hgvsp: ENSP00000342070.3:p.Trp109Cys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.327G>C
  hgvsp: ENSP00000433215.1:p.Trp109Cys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.327G>C
  hgvsp: ENSP00000436627.1:p.Trp109Cys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000532370
  gene symbol: CTSB
  hgvsc: ENST00000532370.1:n.692G>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.327G>C
  hgvsp: ENSP00000436456.1:p.Trp109Cys
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Trp109Cys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

8-11708377-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708377
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708377
    reference: chr 8
allele count: 1
allele frequency: 9.201494322678003e-6
allele num: 108678
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.325T>C
  hgvsp: ENSP00000436159.1:p.Trp109Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.325T>C
  hgvsp: ENSP00000433995.1:p.Trp109Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.325T>C
  hgvsp: ENSP00000431518.1:p.Trp109Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.325T>C
  hgvsp: ENSP00000434725.1:p.Trp109Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.408T>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.325T>C
  hgvsp: ENSP00000434217.1:p.Trp109Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.325T>C
  hgvsp: ENSP00000436122.1:p.Trp109Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.325T>C
  hgvsp: ENSP00000432244.1:p.Trp109Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.325T>C
  hgvsp: ENSP00000409917.2:p.Trp109Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.325T>C
  hgvsp: ENSP00000436627.1:p.Trp109Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.325T>C
  hgvsp: ENSP00000435105.1:p.Trp109Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.325T>C
  hgvsp: ENSP00000436456.1:p.Trp109Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.325T>C
  hgvsp: ENSP00000435074.1:p.Trp109Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.325T>C
  hgvsp: ENSP00000411254.2:p.Trp109Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.325T>C
  hgvsp: ENSP00000345672.5:p.Trp109Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.325T>C
  hgvsp: ENSP00000433215.1:p.Trp109Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.325T>C
  hgvsp: ENSP00000342070.3:p.Trp109Arg
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Trp109Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

8-11708378-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708378
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708378
    reference: chr 8
allele count: 3
allele frequency: 2.75720088965682e-5
allele num: 108806
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.324C>T
  hgvsp: ENST00000534636.1:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.324C>T
  hgvsp: ENST00000530296.1:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.324C>T
  hgvsp: ENST00000534149.1:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.324C>T
  hgvsp: ENST00000533455.1:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.324C>T
  hgvsp: ENST00000526195.1:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.324C>T
  hgvsp: ENST00000453527.2:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.332C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.324C>T
  hgvsp: ENST00000533572.1:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.324C>T
  hgvsp: ENST00000527243.1:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000532370
  gene symbol: CTSB
  hgvsc: ENST00000532370.1:n.689C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.324C>T
  hgvsp: ENST00000526645.1:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.324C>T
  hgvsp: ENST00000531089.1:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.324C>T
  hgvsp: ENST00000531551.1:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.324C>T
  hgvsp: ENST00000415599.2:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.324C>T
  hgvsp: ENST00000534510.1:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.324C>T
  hgvsp: ENST00000530640.2:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.324C>T
  hgvsp: ENST00000353047.6:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.407C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.324C>T
  hgvsp: ENST00000434271.1:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Cys108Cys
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS

8-11708384-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708384
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708384
    reference: chr 8
allele count: 1
allele frequency: 9.048791081511509e-6
allele num: 110512
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.326C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.318C>T
  hgvsp: ENST00000434271.1:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.318C>T
  hgvsp: ENST00000534510.1:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.318C>T
  hgvsp: ENST00000415599.2:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.401C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.318C>T
  hgvsp: ENST00000533572.1:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.318C>T
  hgvsp: ENST00000531089.1:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.318C>T
  hgvsp: ENST00000530296.1:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.318C>T
  hgvsp: ENST00000534149.1:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.318C>T
  hgvsp: ENST00000530640.2:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.318C>T
  hgvsp: ENST00000527243.1:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.318C>T
  hgvsp: ENST00000533455.1:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.318C>T
  hgvsp: ENST00000453527.2:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.318C>T
  hgvsp: ENST00000526195.1:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.318C>T
  hgvsp: ENST00000353047.6:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.318C>T
  hgvsp: ENST00000345125.3:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.318C>T
  hgvsp: ENST00000534636.1:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000532370
  gene symbol: CTSB
  hgvsc: ENST00000532370.1:n.683C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.318C>T
  hgvsp: ENST00000526645.1:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly106Gly
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/8-11708386-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708386
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708386
    reference: chr 8
allele count: 1
allele frequency: 8.993776306795697e-6
allele num: 111188
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.316G>T
  hgvsp: ENSP00000409917.2:p.Gly106Cys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.316G>T
  hgvsp: ENSP00000431518.1:p.Gly106Cys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.399G>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.316G>T
  hgvsp: ENSP00000342070.3:p.Gly106Cys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.316G>T
  hgvsp: ENSP00000432244.1:p.Gly106Cys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.316G>T
  hgvsp: ENSP00000433215.1:p.Gly106Cys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.316G>T
  hgvsp: ENSP00000436159.1:p.Gly106Cys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.316G>T
  hgvsp: ENSP00000415889.1:p.Gly106Cys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.316G>T
  hgvsp: ENSP00000434217.1:p.Gly106Cys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.316G>T
  hgvsp: ENSP00000433995.1:p.Gly106Cys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.316G>T
  hgvsp: ENSP00000435074.1:p.Gly106Cys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.316G>T
  hgvsp: ENSP00000436122.1:p.Gly106Cys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.316G>T
  hgvsp: ENSP00000435105.1:p.Gly106Cys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.316G>T
  hgvsp: ENSP00000436627.1:p.Gly106Cys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.316G>T
  hgvsp: ENSP00000345672.5:p.Gly106Cys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.316G>T
  hgvsp: ENSP00000436456.1:p.Gly106Cys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000532370
  gene symbol: CTSB
  hgvsc: ENST00000532370.1:n.681G>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.324G>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.316G>T
  hgvsp: ENSP00000434725.1:p.Gly106Cys
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly106Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/8-11708388-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708388
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708387
    reference: chr 8
allele count: 2
allele frequency: 1.788173023621766e-5
allele num: 111846
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000532370
  gene symbol: CTSB
  hgvsc: ENST00000532370.1:n.678delT
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.313delT
  hgvsp: ENSP00000342070.3:p.Cys105ValfsTer73
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.313delT
  hgvsp: ENSP00000435105.1:p.Cys105ValfsTer73
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.313delT
  hgvsp: ENSP00000345672.5:p.Cys105ValfsTer73
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.313delT
  hgvsp: ENSP00000434217.1:p.Cys105ValfsTer73
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.313delT
  hgvsp: ENSP00000436159.1:p.Cys105ValfsTer?
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.313delT
  hgvsp: ENSP00000432244.1:p.Cys105ValfsTer73
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.313delT
  hgvsp: ENSP00000436627.1:p.Cys105ValfsTer?
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.313delT
  hgvsp: ENSP00000436122.1:p.Cys105ValfsTer?
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.313delT
  hgvsp: ENSP00000409917.2:p.Cys105ValfsTer73
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.313delT
  hgvsp: ENSP00000411254.2:p.Cys105ValfsTer196
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.313delT
  hgvsp: ENSP00000431518.1:p.Cys105ValfsTer?
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.313delT
  hgvsp: ENSP00000433995.1:p.Cys105ValfsTer?
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.313delT
  hgvsp: ENSP00000436456.1:p.Cys105ValfsTer196
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.313delT
  hgvsp: ENSP00000433215.1:p.Cys105ValfsTer73
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.313delT
  hgvsp: ENSP00000435074.1:p.Cys105ValfsTer?
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.396delT
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.313delT
  hgvsp: ENSP00000434725.1:p.Cys105ValfsTer?
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.321delT
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Cys105ValfsTer73
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: CA
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

8-11708390-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708390
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708390
    reference: chr 8
allele count: 1
allele frequency: 8.892683100345036e-6
allele num: 112452
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.312C>T
  hgvsp: ENST00000453527.2:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.312C>T
  hgvsp: ENST00000534636.1:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.320C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.312C>T
  hgvsp: ENST00000531551.1:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.395C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.312C>T
  hgvsp: ENST00000434271.1:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.312C>T
  hgvsp: ENST00000353047.6:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.312C>T
  hgvsp: ENST00000530296.1:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.312C>T
  hgvsp: ENST00000533572.1:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.312C>T
  hgvsp: ENST00000345125.3:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.312C>T
  hgvsp: ENST00000530640.2:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.312C>T
  hgvsp: ENST00000415599.2:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.312C>T
  hgvsp: ENST00000526195.1:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.312C>T
  hgvsp: ENST00000534149.1:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.312C>T
  hgvsp: ENST00000526645.1:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.312C>T
  hgvsp: ENST00000534510.1:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.312C>T
  hgvsp: ENST00000527243.1:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.312C>T
  hgvsp: ENST00000531089.1:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.312C>T
  hgvsp: ENST00000533455.1:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser104Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD

8-11708398-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708398
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708398
    reference: chr 8
allele count: 1
allele frequency: 8.745692746322435e-6
allele num: 114342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.304C>G
  hgvsp: ENSP00000434725.1:p.Gln102Glu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435650
  ensembl transcript: ENST00000505496
  gene symbol: CTSB
  hgvsc: ENST00000505496.2:c.304C>G
  hgvsp: ENST00000505496.2:c.304C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.304C>G
  hgvsp: ENSP00000431518.1:p.Gln102Glu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.304C>G
  hgvsp: ENSP00000342070.3:p.Gln102Glu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.304C>G
  hgvsp: ENSP00000435074.1:p.Gln102Glu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.304C>G
  hgvsp: ENSP00000436627.1:p.Gln102Glu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.304C>G
  hgvsp: ENSP00000345672.5:p.Gln102Glu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.304C>G
  hgvsp: ENSP00000432244.1:p.Gln102Glu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.304C>G
  hgvsp: ENSP00000436456.1:p.Gln102Glu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.304C>G
  hgvsp: ENSP00000435105.1:p.Gln102Glu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.304C>G
  hgvsp: ENSP00000409917.2:p.Gln102Glu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.387C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.304C>G
  hgvsp: ENSP00000433215.1:p.Gln102Glu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000532370
  gene symbol: CTSB
  hgvsc: ENST00000532370.1:n.669C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.312C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.304C>G
  hgvsp: ENSP00000434217.1:p.Gln102Glu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.304C>G
  hgvsp: ENSP00000436122.1:p.Gln102Glu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.304C>G
  hgvsp: ENSP00000433995.1:p.Gln102Glu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.304C>G
  hgvsp: ENSP00000411254.2:p.Gln102Glu
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln102Glu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

8-11708405-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708405
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708405
    reference: chr 8
allele count: 6
allele frequency: 5.184570717544587e-5
allele num: 115728
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.297C>G
  hgvsp: ENSP00000411254.2:p.Ile99Met
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.297C>G
  hgvsp: ENSP00000433995.1:p.Ile99Met
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.297C>G
  hgvsp: ENSP00000436627.1:p.Ile99Met
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.297C>G
  hgvsp: ENSP00000434725.1:p.Ile99Met
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.297C>G
  hgvsp: ENSP00000433215.1:p.Ile99Met
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.297C>G
  hgvsp: ENSP00000409917.2:p.Ile99Met
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.297C>G
  hgvsp: ENSP00000345672.5:p.Ile99Met
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.297C>G
  hgvsp: ENSP00000431518.1:p.Ile99Met
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.297C>G
  hgvsp: ENSP00000435105.1:p.Ile99Met
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.297C>G
  hgvsp: ENSP00000434217.1:p.Ile99Met
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.297C>G
  hgvsp: ENSP00000436122.1:p.Ile99Met
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.297C>G
  hgvsp: ENSP00000436159.1:p.Ile99Met
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.297C>G
  hgvsp: ENSP00000435074.1:p.Ile99Met
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000532370
  gene symbol: CTSB
  hgvsc: ENST00000532370.1:n.662C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.297C>G
  hgvsp: ENSP00000432244.1:p.Ile99Met
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.297C>G
  hgvsp: ENSP00000436456.1:p.Ile99Met
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.380C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.297C>G
  hgvsp: ENSP00000415889.1:p.Ile99Met
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435650
  ensembl transcript: ENST00000505496
  gene symbol: CTSB
  hgvsc: ENST00000505496.2:c.297C>G
  hgvsp: ENSP00000435650.1:p.Ile99Met
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile99Met
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ

8-11708408-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708408
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708408
    reference: chr 8
allele count: 1
allele frequency: 8.603778779640018e-6
allele num: 116228
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.294G>A
  hgvsp: ENST00000530296.1:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.294G>A
  hgvsp: ENST00000531551.1:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.294G>A
  hgvsp: ENST00000534510.1:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.294G>A
  hgvsp: ENST00000434271.1:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.294G>A
  hgvsp: ENST00000527243.1:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.294G>A
  hgvsp: ENST00000526195.1:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435650
  ensembl transcript: ENST00000505496
  gene symbol: CTSB
  hgvsc: ENST00000505496.2:c.294G>A
  hgvsp: ENST00000505496.2:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.294G>A
  hgvsp: ENST00000345125.3:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.294G>A
  hgvsp: ENST00000526645.1:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.294G>A
  hgvsp: ENST00000531089.1:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.294G>A
  hgvsp: ENST00000530640.2:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.377G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.294G>A
  hgvsp: ENST00000533572.1:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.294G>A
  hgvsp: ENST00000453527.2:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.294G>A
  hgvsp: ENST00000534149.1:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.294G>A
  hgvsp: ENST00000534636.1:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.294G>A
  hgvsp: ENST00000415599.2:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.294G>A
  hgvsp: ENST00000533455.1:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436074
  ensembl transcript: ENST00000524500
  gene symbol: CTSB
  hgvsc: ENST00000524500.1:c.294G>A
  hgvsp: ENST00000524500.1:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu98Glu
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

8-11708413-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708413
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708413
    reference: chr 8
allele count: 1
allele frequency: 8.565897449075739e-6
allele num: 116742
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.289A>G
  hgvsp: ENSP00000433995.1:p.Lys97Glu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.289A>G
  hgvsp: ENSP00000436456.1:p.Lys97Glu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.289A>G
  hgvsp: ENSP00000409917.2:p.Lys97Glu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000532370
  gene symbol: CTSB
  hgvsc: ENST00000532370.1:n.654A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.289A>G
  hgvsp: ENSP00000435074.1:p.Lys97Glu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.289A>G
  hgvsp: ENSP00000434725.1:p.Lys97Glu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.289A>G
  hgvsp: ENSP00000436627.1:p.Lys97Glu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.289A>G
  hgvsp: ENSP00000435105.1:p.Lys97Glu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.289A>G
  hgvsp: ENSP00000436122.1:p.Lys97Glu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.289A>G
  hgvsp: ENSP00000345672.5:p.Lys97Glu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.289A>G
  hgvsp: ENSP00000411254.2:p.Lys97Glu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.289A>G
  hgvsp: ENSP00000433215.1:p.Lys97Glu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.289A>G
  hgvsp: ENSP00000431518.1:p.Lys97Glu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.289A>G
  hgvsp: ENSP00000432244.1:p.Lys97Glu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.289A>G
  hgvsp: ENSP00000342070.3:p.Lys97Glu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435650
  ensembl transcript: ENST00000505496
  gene symbol: CTSB
  hgvsc: ENST00000505496.2:c.289A>G
  hgvsp: ENSP00000435650.1:p.Lys97Glu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.289A>G
  hgvsp: ENSP00000436159.1:p.Lys97Glu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436074
  ensembl transcript: ENST00000524500
  gene symbol: CTSB
  hgvsc: ENST00000524500.1:c.289A>G
  hgvsp: ENSP00000436074.1:p.Lys97Glu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.289A>G
  hgvsp: ENSP00000434217.1:p.Lys97Glu
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys97Glu
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum

8-11708416-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708416
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708416
    reference: chr 8
allele count: 1
allele frequency: 8.551540132377842e-6
allele num: 116938
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.286A>G
  hgvsp: ENSP00000435074.1:p.Ile96Val
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.286A>G
  hgvsp: ENSP00000345672.5:p.Ile96Val
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.286A>G
  hgvsp: ENSP00000409917.2:p.Ile96Val
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.286A>G
  hgvsp: ENSP00000342070.3:p.Ile96Val
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.286A>G
  hgvsp: ENSP00000433995.1:p.Ile96Val
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.286A>G
  hgvsp: ENSP00000436456.1:p.Ile96Val
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.286A>G
  hgvsp: ENSP00000436627.1:p.Ile96Val
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.286A>G
  hgvsp: ENSP00000432244.1:p.Ile96Val
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.286A>G
  hgvsp: ENSP00000435105.1:p.Ile96Val
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.286A>G
  hgvsp: ENSP00000434725.1:p.Ile96Val
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.286A>G
  hgvsp: ENSP00000436122.1:p.Ile96Val
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.286A>G
  hgvsp: ENSP00000411254.2:p.Ile96Val
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435650
  ensembl transcript: ENST00000505496
  gene symbol: CTSB
  hgvsc: ENST00000505496.2:c.286A>G
  hgvsp: ENSP00000435650.1:p.Ile96Val
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.286A>G
  hgvsp: ENSP00000434217.1:p.Ile96Val
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.369A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.286A>G
  hgvsp: ENSP00000431518.1:p.Ile96Val
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436074
  ensembl transcript: ENST00000524500
  gene symbol: CTSB
  hgvsc: ENST00000524500.1:c.286A>G
  hgvsp: ENSP00000436074.1:p.Ile96Val
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.294A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000532370
  gene symbol: CTSB
  hgvsc: ENST00000532370.1:n.651A>G
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile96Val
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP

8-11708418-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708418
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708418
    reference: chr 8
allele count: 2
allele frequency: 1.710688381004516e-5
allele num: 116912
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.284C>T
  hgvsp: ENSP00000435105.1:p.Thr95Ile
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.284C>T
  hgvsp: ENSP00000433995.1:p.Thr95Ile
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.284C>T
  hgvsp: ENSP00000434217.1:p.Thr95Ile
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.292C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.284C>T
  hgvsp: ENSP00000342070.3:p.Thr95Ile
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.284C>T
  hgvsp: ENSP00000409917.2:p.Thr95Ile
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.284C>T
  hgvsp: ENSP00000436122.1:p.Thr95Ile
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436074
  ensembl transcript: ENST00000524500
  gene symbol: CTSB
  hgvsc: ENST00000524500.1:c.284C>T
  hgvsp: ENSP00000436074.1:p.Thr95Ile
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.284C>T
  hgvsp: ENSP00000411254.2:p.Thr95Ile
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.284C>T
  hgvsp: ENSP00000431518.1:p.Thr95Ile
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.284C>T
  hgvsp: ENSP00000432244.1:p.Thr95Ile
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.284C>T
  hgvsp: ENSP00000435074.1:p.Thr95Ile
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.284C>T
  hgvsp: ENSP00000436456.1:p.Thr95Ile
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.284C>T
  hgvsp: ENSP00000436627.1:p.Thr95Ile
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.367C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.284C>T
  hgvsp: ENSP00000433215.1:p.Thr95Ile
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435650
  ensembl transcript: ENST00000505496
  gene symbol: CTSB
  hgvsc: ENST00000505496.2:c.284C>T
  hgvsp: ENSP00000435650.1:p.Thr95Ile
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.284C>T
  hgvsp: ENSP00000415889.1:p.Thr95Ile
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.284C>T
  hgvsp: ENSP00000436159.1:p.Thr95Ile
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr95Ile
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

8-11708418-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708418
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708418
    reference: chr 8
allele count: 1
allele frequency: 8.553441905022582e-6
allele num: 116912
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.284C>G
  hgvsp: ENSP00000431518.1:p.Thr95Ser
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.284C>G
  hgvsp: ENSP00000409917.2:p.Thr95Ser
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.284C>G
  hgvsp: ENSP00000345672.5:p.Thr95Ser
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.284C>G
  hgvsp: ENSP00000415889.1:p.Thr95Ser
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.284C>G
  hgvsp: ENSP00000434217.1:p.Thr95Ser
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436074
  ensembl transcript: ENST00000524500
  gene symbol: CTSB
  hgvsc: ENST00000524500.1:c.284C>G
  hgvsp: ENSP00000436074.1:p.Thr95Ser
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.367C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.284C>G
  hgvsp: ENSP00000435105.1:p.Thr95Ser
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.284C>G
  hgvsp: ENSP00000342070.3:p.Thr95Ser
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.284C>G
  hgvsp: ENSP00000434725.1:p.Thr95Ser
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.284C>G
  hgvsp: ENSP00000435074.1:p.Thr95Ser
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.284C>G
  hgvsp: ENSP00000436456.1:p.Thr95Ser
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.284C>G
  hgvsp: ENSP00000433215.1:p.Thr95Ser
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.284C>G
  hgvsp: ENSP00000432244.1:p.Thr95Ser
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.284C>G
  hgvsp: ENSP00000436627.1:p.Thr95Ser
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.284C>G
  hgvsp: ENSP00000433995.1:p.Thr95Ser
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000532370
  gene symbol: CTSB
  hgvsc: ENST00000532370.1:n.649C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.284C>G
  hgvsp: ENSP00000436159.1:p.Thr95Ser
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.284C>G
  hgvsp: ENSP00000411254.2:p.Thr95Ser
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr95Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

8-11708421-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708421
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708421
    reference: chr 8
allele count: 246
allele frequency: 2.100230513105097e-3
allele num: 117130
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.281C>T
  hgvsp: ENSP00000435074.1:p.Pro94Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.281C>T
  hgvsp: ENSP00000409917.2:p.Pro94Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.364C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436074
  ensembl transcript: ENST00000524500
  gene symbol: CTSB
  hgvsc: ENST00000524500.1:c.281C>T
  hgvsp: ENSP00000436074.1:p.Pro94Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.281C>T
  hgvsp: ENSP00000431518.1:p.Pro94Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.281C>T
  hgvsp: ENSP00000433215.1:p.Pro94Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.281C>T
  hgvsp: ENSP00000436159.1:p.Pro94Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.281C>T
  hgvsp: ENSP00000435105.1:p.Pro94Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435650
  ensembl transcript: ENST00000505496
  gene symbol: CTSB
  hgvsc: ENST00000505496.2:c.281C>T
  hgvsp: ENSP00000435650.1:p.Pro94Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.281C>T
  hgvsp: ENSP00000434217.1:p.Pro94Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000532370
  gene symbol: CTSB
  hgvsc: ENST00000532370.1:n.646C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.281C>T
  hgvsp: ENSP00000436122.1:p.Pro94Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.281C>T
  hgvsp: ENSP00000436627.1:p.Pro94Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.289C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.281C>T
  hgvsp: ENSP00000433995.1:p.Pro94Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.281C>T
  hgvsp: ENSP00000345672.5:p.Pro94Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.281C>T
  hgvsp: ENSP00000432244.1:p.Pro94Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.281C>T
  hgvsp: ENSP00000342070.3:p.Pro94Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.281C>T
  hgvsp: ENSP00000411254.2:p.Pro94Leu
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro94Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

8-11708421-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708421
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708421
    reference: chr 8
allele count: 1
allele frequency: 8.537522410996328e-6
allele num: 117130
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.281C>G
  hgvsp: ENSP00000436627.1:p.Pro94Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.281C>G
  hgvsp: ENSP00000434725.1:p.Pro94Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.281C>G
  hgvsp: ENSP00000409917.2:p.Pro94Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435650
  ensembl transcript: ENST00000505496
  gene symbol: CTSB
  hgvsc: ENST00000505496.2:c.281C>G
  hgvsp: ENSP00000435650.1:p.Pro94Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000532370
  gene symbol: CTSB
  hgvsc: ENST00000532370.1:n.646C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.281C>G
  hgvsp: ENSP00000432244.1:p.Pro94Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.281C>G
  hgvsp: ENSP00000433995.1:p.Pro94Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.281C>G
  hgvsp: ENSP00000411254.2:p.Pro94Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.281C>G
  hgvsp: ENSP00000434217.1:p.Pro94Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.281C>G
  hgvsp: ENSP00000433215.1:p.Pro94Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.281C>G
  hgvsp: ENSP00000435074.1:p.Pro94Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.281C>G
  hgvsp: ENSP00000431518.1:p.Pro94Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.281C>G
  hgvsp: ENSP00000436159.1:p.Pro94Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.281C>G
  hgvsp: ENSP00000342070.3:p.Pro94Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.289C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436074
  ensembl transcript: ENST00000524500
  gene symbol: CTSB
  hgvsc: ENST00000524500.1:c.281C>G
  hgvsp: ENSP00000436074.1:p.Pro94Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.364C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.281C>G
  hgvsp: ENSP00000435105.1:p.Pro94Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.281C>G
  hgvsp: ENSP00000436456.1:p.Pro94Arg
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro94Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

8-11708426-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708426
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708426
    reference: chr 8
allele count: 4
allele frequency: 3.409245874812491e-5
allele num: 117328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.276G>A
  hgvsp: ENST00000527243.1:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.276G>A
  hgvsp: ENST00000526645.1:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.276G>A
  hgvsp: ENST00000534149.1:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.276G>A
  hgvsp: ENST00000534510.1:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.276G>A
  hgvsp: ENST00000534636.1:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.276G>A
  hgvsp: ENST00000533572.1:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.276G>A
  hgvsp: ENST00000353047.6:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.276G>A
  hgvsp: ENST00000531551.1:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436074
  ensembl transcript: ENST00000524500
  gene symbol: CTSB
  hgvsc: ENST00000524500.1:c.276G>A
  hgvsp: ENST00000524500.1:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.276G>A
  hgvsp: ENST00000533455.1:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.276G>A
  hgvsp: ENST00000531089.1:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435886
  ensembl transcript: ENST00000531502
  gene symbol: CTSB
  hgvsc: ENST00000531502.1:c.276G>A
  hgvsp: ENST00000531502.1:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.276G>A
  hgvsp: ENST00000530296.1:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.284G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.276G>A
  hgvsp: ENST00000453527.2:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435650
  ensembl transcript: ENST00000505496
  gene symbol: CTSB
  hgvsc: ENST00000505496.2:c.276G>A
  hgvsp: ENST00000505496.2:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.276G>A
  hgvsp: ENST00000415599.2:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000532370
  gene symbol: CTSB
  hgvsc: ENST00000532370.1:n.641G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.276G>A
  hgvsp: ENST00000345125.3:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln92Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

8-11708429-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708429
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708429
    reference: chr 8
allele count: 1
allele frequency: 8.521952549768203e-6
allele num: 117344
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435886
  ensembl transcript: ENST00000531502
  gene symbol: CTSB
  hgvsc: ENST00000531502.1:c.273A>G
  hgvsp: ENST00000531502.1:c.273A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.281A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.273A>G
  hgvsp: ENST00000434271.1:c.273A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.273A>G
  hgvsp: ENST00000345125.3:c.273A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.273A>G
  hgvsp: ENST00000353047.6:c.273A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.356A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000532370
  gene symbol: CTSB
  hgvsc: ENST00000532370.1:n.638A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.273A>G
  hgvsp: ENST00000534636.1:c.273A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.273A>G
  hgvsp: ENST00000415599.2:c.273A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.273A>G
  hgvsp: ENST00000526195.1:c.273A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.273A>G
  hgvsp: ENST00000530640.2:c.273A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.273A>G
  hgvsp: ENST00000530296.1:c.273A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.273A>G
  hgvsp: ENST00000534510.1:c.273A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.273A>G
  hgvsp: ENST00000453527.2:c.273A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.273A>G
  hgvsp: ENST00000531089.1:c.273A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.273A>G
  hgvsp: ENST00000533455.1:c.273A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.273A>G
  hgvsp: ENST00000526645.1:c.273A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.273A>G
  hgvsp: ENST00000531551.1:c.273A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436074
  ensembl transcript: ENST00000524500
  gene symbol: CTSB
  hgvsc: ENST00000524500.1:c.273A>G
  hgvsp: ENST00000524500.1:c.273A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro91Pro
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

8-11708430-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708430
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708430
    reference: chr 8
allele count: 125
allele frequency: 1.06473594548552e-3
allele num: 117400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.272C>T
  hgvsp: ENSP00000436122.1:p.Pro91Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435650
  ensembl transcript: ENST00000505496
  gene symbol: CTSB
  hgvsc: ENST00000505496.2:c.272C>T
  hgvsp: ENSP00000435650.1:p.Pro91Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.272C>T
  hgvsp: ENSP00000432244.1:p.Pro91Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.272C>T
  hgvsp: ENSP00000342070.3:p.Pro91Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.272C>T
  hgvsp: ENSP00000409917.2:p.Pro91Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435886
  ensembl transcript: ENST00000531502
  gene symbol: CTSB
  hgvsc: ENST00000531502.1:c.272C>T
  hgvsp: ENSP00000435886.1:p.Pro91Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.272C>T
  hgvsp: ENSP00000411254.2:p.Pro91Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.272C>T
  hgvsp: ENSP00000431518.1:p.Pro91Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.272C>T
  hgvsp: ENSP00000434217.1:p.Pro91Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.272C>T
  hgvsp: ENSP00000435105.1:p.Pro91Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.272C>T
  hgvsp: ENSP00000415889.1:p.Pro91Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.272C>T
  hgvsp: ENSP00000436159.1:p.Pro91Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.272C>T
  hgvsp: ENSP00000436627.1:p.Pro91Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000532370
  gene symbol: CTSB
  hgvsc: ENST00000532370.1:n.637C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.272C>T
  hgvsp: ENSP00000345672.5:p.Pro91Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.355C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.272C>T
  hgvsp: ENSP00000433995.1:p.Pro91Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.272C>T
  hgvsp: ENSP00000433215.1:p.Pro91Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.272C>T
  hgvsp: ENSP00000435074.1:p.Pro91Leu
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro91Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

8-11708437-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708437
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708437
    reference: chr 8
allele count: 1
allele frequency: 8.526893823118114e-6
allele num: 117276
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.265C>T
  hgvsp: ENSP00000435074.1:p.Gln89Ter
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435650
  ensembl transcript: ENST00000505496
  gene symbol: CTSB
  hgvsc: ENST00000505496.2:c.265C>T
  hgvsp: ENSP00000435650.1:p.Gln89Ter
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.348C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000532370
  gene symbol: CTSB
  hgvsc: ENST00000532370.1:n.630C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.265C>T
  hgvsp: ENSP00000436122.1:p.Gln89Ter
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.265C>T
  hgvsp: ENSP00000434725.1:p.Gln89Ter
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.265C>T
  hgvsp: ENSP00000409917.2:p.Gln89Ter
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.265C>T
  hgvsp: ENSP00000432244.1:p.Gln89Ter
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.265C>T
  hgvsp: ENSP00000433995.1:p.Gln89Ter
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.265C>T
  hgvsp: ENSP00000436159.1:p.Gln89Ter
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.265C>T
  hgvsp: ENSP00000436456.1:p.Gln89Ter
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436074
  ensembl transcript: ENST00000524500
  gene symbol: CTSB
  hgvsc: ENST00000524500.1:c.265C>T
  hgvsp: ENSP00000436074.1:p.Gln89Ter
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435886
  ensembl transcript: ENST00000531502
  gene symbol: CTSB
  hgvsc: ENST00000531502.1:c.265C>T
  hgvsp: ENSP00000435886.1:p.Gln89Ter
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.265C>T
  hgvsp: ENSP00000415889.1:p.Gln89Ter
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.265C>T
  hgvsp: ENSP00000411254.2:p.Gln89Ter
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.265C>T
  hgvsp: ENSP00000433215.1:p.Gln89Ter
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.265C>T
  hgvsp: ENSP00000342070.3:p.Gln89Ter
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.265C>T
  hgvsp: ENSP00000434217.1:p.Gln89Ter
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.265C>T
  hgvsp: ENSP00000431518.1:p.Gln89Ter
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln89Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS

8-11708450-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708450
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708450
    reference: chr 8
allele count: 2
allele frequency: 1.718272105570638e-5
allele num: 116396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.252C>T
  hgvsp: ENST00000530640.2:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.252C>T
  hgvsp: ENST00000534149.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436074
  ensembl transcript: ENST00000524500
  gene symbol: CTSB
  hgvsc: ENST00000524500.1:c.252C>T
  hgvsp: ENST00000524500.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.252C>T
  hgvsp: ENST00000534636.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.252C>T
  hgvsp: ENST00000526645.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.252C>T
  hgvsp: ENST00000453527.2:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.252C>T
  hgvsp: ENST00000530296.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.252C>T
  hgvsp: ENST00000533455.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000532370
  gene symbol: CTSB
  hgvsc: ENST00000532370.1:n.617C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.252C>T
  hgvsp: ENST00000526195.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.252C>T
  hgvsp: ENST00000531089.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.252C>T
  hgvsp: ENST00000533572.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.252C>T
  hgvsp: ENST00000534510.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.252C>T
  hgvsp: ENST00000527243.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435650
  ensembl transcript: ENST00000505496
  gene symbol: CTSB
  hgvsc: ENST00000505496.2:c.252C>T
  hgvsp: ENST00000505496.2:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435886
  ensembl transcript: ENST00000531502
  gene symbol: CTSB
  hgvsc: ENST00000531502.1:c.252C>T
  hgvsp: ENST00000531502.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.252C>T
  hgvsp: ENST00000415599.2:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.252C>T
  hgvsp: ENST00000434271.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.252C>T
  hgvsp: ENST00000353047.6:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Phe84Phe
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

8-11708454-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708454
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708454
    reference: chr 8
allele count: 1
allele frequency: 8.622622311897494e-6
allele num: 115974
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.248G>A
  hgvsp: ENSP00000411254.2:p.Ser83Asn
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.248G>A
  hgvsp: ENSP00000342070.3:p.Ser83Asn
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.248G>A
  hgvsp: ENSP00000436456.1:p.Ser83Asn
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.248G>A
  hgvsp: ENSP00000433215.1:p.Ser83Asn
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.248G>A
  hgvsp: ENSP00000432244.1:p.Ser83Asn
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.256G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435650
  ensembl transcript: ENST00000505496
  gene symbol: CTSB
  hgvsc: ENST00000505496.2:c.248G>A
  hgvsp: ENSP00000435650.1:p.Ser83Asn
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.248G>A
  hgvsp: ENSP00000433995.1:p.Ser83Asn
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.248G>A
  hgvsp: ENSP00000434217.1:p.Ser83Asn
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.248G>A
  hgvsp: ENSP00000435074.1:p.Ser83Asn
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.248G>A
  hgvsp: ENSP00000345672.5:p.Ser83Asn
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.248G>A
  hgvsp: ENSP00000431518.1:p.Ser83Asn
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000532370
  gene symbol: CTSB
  hgvsc: ENST00000532370.1:n.613G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.248G>A
  hgvsp: ENSP00000434725.1:p.Ser83Asn
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.248G>A
  hgvsp: ENSP00000436122.1:p.Ser83Asn
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.248G>A
  hgvsp: ENSP00000435105.1:p.Ser83Asn
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.248G>A
  hgvsp: ENSP00000415889.1:p.Ser83Asn
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.248G>A
  hgvsp: ENSP00000436627.1:p.Ser83Asn
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436074
  ensembl transcript: ENST00000524500
  gene symbol: CTSB
  hgvsc: ENST00000524500.1:c.248G>A
  hgvsp: ENSP00000436074.1:p.Ser83Asn
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser83Asn
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

8-11708464-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708464
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708464
    reference: chr 8
allele count: 2
allele frequency: 1.761431691678997e-5
allele num: 113544
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.238C>T
  hgvsp: ENST00000345125.3:c.238C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.238C>T
  hgvsp: ENST00000533455.1:c.238C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.238C>T
  hgvsp: ENST00000415599.2:c.238C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.238C>T
  hgvsp: ENST00000530640.2:c.238C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435886
  ensembl transcript: ENST00000531502
  gene symbol: CTSB
  hgvsc: ENST00000531502.1:c.238C>T
  hgvsp: ENST00000531502.1:c.238C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.238C>T
  hgvsp: ENST00000534510.1:c.238C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.238C>T
  hgvsp: ENST00000526195.1:c.238C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.238C>T
  hgvsp: ENST00000453527.2:c.238C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.238C>T
  hgvsp: ENST00000526645.1:c.238C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.238C>T
  hgvsp: ENST00000530296.1:c.238C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435650
  ensembl transcript: ENST00000505496
  gene symbol: CTSB
  hgvsc: ENST00000505496.2:c.238C>T
  hgvsp: ENST00000505496.2:c.238C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.238C>T
  hgvsp: ENST00000531551.1:c.238C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.238C>T
  hgvsp: ENST00000534636.1:c.238C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.238C>T
  hgvsp: ENST00000527243.1:c.238C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.238C>T
  hgvsp: ENST00000533572.1:c.238C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.238C>T
  hgvsp: ENST00000531089.1:c.238C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436074
  ensembl transcript: ENST00000524500
  gene symbol: CTSB
  hgvsc: ENST00000524500.1:c.238C>T
  hgvsp: ENST00000524500.1:c.238C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.246C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.238C>T
  hgvsp: ENST00000353047.6:c.238C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu80Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum

8-11708468-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708468
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708468
    reference: chr 8
allele count: 1
allele frequency: 8.950307890591436e-6
allele num: 111728
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.234G>A
  hgvsp: ENST00000353047.6:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436074
  ensembl transcript: ENST00000524500
  gene symbol: CTSB
  hgvsc: ENST00000524500.1:c.234G>A
  hgvsp: ENST00000524500.1:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.234G>A
  hgvsp: ENST00000527243.1:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.234G>A
  hgvsp: ENST00000531551.1:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.234G>A
  hgvsp: ENST00000415599.2:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.234G>A
  hgvsp: ENST00000526195.1:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.234G>A
  hgvsp: ENST00000534510.1:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.234G>A
  hgvsp: ENST00000453527.2:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.234G>A
  hgvsp: ENST00000526645.1:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.234G>A
  hgvsp: ENST00000533455.1:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.234G>A
  hgvsp: ENST00000533572.1:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435886
  ensembl transcript: ENST00000531502
  gene symbol: CTSB
  hgvsc: ENST00000531502.1:c.234G>A
  hgvsp: ENST00000531502.1:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.234G>A
  hgvsp: ENST00000345125.3:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435650
  ensembl transcript: ENST00000505496
  gene symbol: CTSB
  hgvsc: ENST00000505496.2:c.234G>A
  hgvsp: ENST00000505496.2:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000532370
  gene symbol: CTSB
  hgvsc: ENST00000532370.1:n.599G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.234G>A
  hgvsp: ENST00000434271.1:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.234G>A
  hgvsp: ENST00000530640.2:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.242G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.234G>A
  hgvsp: ENST00000534149.1:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu78Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS

8-11708470-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708470
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708470
    reference: chr 8
allele count: 4
allele frequency: 3.610694878229315e-5
allele num: 110782
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435886
  ensembl transcript: ENST00000531502
  gene symbol: CTSB
  hgvsc: ENST00000531502.1:c.232C>T
  hgvsp: ENST00000531502.1:c.232C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436074
  ensembl transcript: ENST00000524500
  gene symbol: CTSB
  hgvsc: ENST00000524500.1:c.232C>T
  hgvsp: ENST00000524500.1:c.232C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.232C>T
  hgvsp: ENST00000530640.2:c.232C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.315C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.232C>T
  hgvsp: ENST00000526645.1:c.232C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.232C>T
  hgvsp: ENST00000534510.1:c.232C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435650
  ensembl transcript: ENST00000505496
  gene symbol: CTSB
  hgvsc: ENST00000505496.2:c.232C>T
  hgvsp: ENST00000505496.2:c.232C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.232C>T
  hgvsp: ENST00000530296.1:c.232C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.232C>T
  hgvsp: ENST00000345125.3:c.232C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.232C>T
  hgvsp: ENST00000533572.1:c.232C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.232C>T
  hgvsp: ENST00000453527.2:c.232C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.232C>T
  hgvsp: ENST00000533455.1:c.232C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.232C>T
  hgvsp: ENST00000526195.1:c.232C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.232C>T
  hgvsp: ENST00000434271.1:c.232C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000532370
  gene symbol: CTSB
  hgvsc: ENST00000532370.1:n.597C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.232C>T
  hgvsp: ENST00000415599.2:c.232C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.232C>T
  hgvsp: ENST00000527243.1:c.232C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.232C>T
  hgvsp: ENST00000531089.1:c.232C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.232C>T
  hgvsp: ENST00000353047.6:c.232C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu78Leu
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP

8-11708470-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708470
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708470
    reference: chr 8
allele count: 4
allele frequency: 3.610694878229315e-5
allele num: 110782
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.232C>G
  hgvsp: ENSP00000435074.1:p.Leu78Val
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435886
  ensembl transcript: ENST00000531502
  gene symbol: CTSB
  hgvsc: ENST00000531502.1:c.232C>G
  hgvsp: ENSP00000435886.1:p.Leu78Val
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.232C>G
  hgvsp: ENSP00000411254.2:p.Leu78Val
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000532370
  gene symbol: CTSB
  hgvsc: ENST00000532370.1:n.597C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.232C>G
  hgvsp: ENSP00000431518.1:p.Leu78Val
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435650
  ensembl transcript: ENST00000505496
  gene symbol: CTSB
  hgvsc: ENST00000505496.2:c.232C>G
  hgvsp: ENSP00000435650.1:p.Leu78Val
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.315C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.232C>G
  hgvsp: ENSP00000436122.1:p.Leu78Val
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.232C>G
  hgvsp: ENSP00000433995.1:p.Leu78Val
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.232C>G
  hgvsp: ENSP00000436159.1:p.Leu78Val
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.232C>G
  hgvsp: ENSP00000415889.1:p.Leu78Val
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.232C>G
  hgvsp: ENSP00000342070.3:p.Leu78Val
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.232C>G
  hgvsp: ENSP00000436627.1:p.Leu78Val
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436074
  ensembl transcript: ENST00000524500
  gene symbol: CTSB
  hgvsc: ENST00000524500.1:c.232C>G
  hgvsp: ENSP00000436074.1:p.Leu78Val
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.232C>G
  hgvsp: ENSP00000435105.1:p.Leu78Val
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.232C>G
  hgvsp: ENSP00000434217.1:p.Leu78Val
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.232C>G
  hgvsp: ENSP00000345672.5:p.Leu78Val
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.232C>G
  hgvsp: ENSP00000432244.1:p.Leu78Val
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.232C>G
  hgvsp: ENSP00000409917.2:p.Leu78Val
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu78Val
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

8-11708471-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708471
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708471
    reference: chr 8
allele count: 1
allele frequency: 9.063389345079487e-6
allele num: 110334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.231C>T
  hgvsp: ENST00000534636.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.231C>T
  hgvsp: ENST00000533455.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.231C>T
  hgvsp: ENST00000353047.6:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.231C>T
  hgvsp: ENST00000530640.2:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.231C>T
  hgvsp: ENST00000530296.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.231C>T
  hgvsp: ENST00000534510.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.231C>T
  hgvsp: ENST00000531089.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.231C>T
  hgvsp: ENST00000526645.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.231C>T
  hgvsp: ENST00000534149.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.239C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.231C>T
  hgvsp: ENST00000531551.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000532370
  gene symbol: CTSB
  hgvsc: ENST00000532370.1:n.596C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.231C>T
  hgvsp: ENST00000533572.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436074
  ensembl transcript: ENST00000524500
  gene symbol: CTSB
  hgvsc: ENST00000524500.1:c.231C>T
  hgvsp: ENST00000524500.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.231C>T
  hgvsp: ENST00000526195.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.231C>T
  hgvsp: ENST00000415599.2:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.231C>T
  hgvsp: ENST00000527243.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435886
  ensembl transcript: ENST00000531502
  gene symbol: CTSB
  hgvsc: ENST00000531502.1:c.231C>T
  hgvsp: ENST00000531502.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.231C>T
  hgvsp: ENST00000453527.2:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp77Asp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

8-11708472-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708472
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708472
    reference: chr 8
allele count: 1
allele frequency: 9.102328375598477e-6
allele num: 109862
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.230A>C
  hgvsp: ENSP00000436159.1:p.Asp77Ala
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435886
  ensembl transcript: ENST00000531502
  gene symbol: CTSB
  hgvsc: ENST00000531502.1:c.230A>C
  hgvsp: ENSP00000435886.1:p.Asp77Ala
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.230A>C
  hgvsp: ENSP00000345672.5:p.Asp77Ala
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.230A>C
  hgvsp: ENSP00000434725.1:p.Asp77Ala
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.230A>C
  hgvsp: ENSP00000434217.1:p.Asp77Ala
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.230A>C
  hgvsp: ENSP00000411254.2:p.Asp77Ala
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.230A>C
  hgvsp: ENSP00000431518.1:p.Asp77Ala
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435650
  ensembl transcript: ENST00000505496
  gene symbol: CTSB
  hgvsc: ENST00000505496.2:c.230A>C
  hgvsp: ENSP00000435650.1:p.Asp77Ala
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.238A>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436074
  ensembl transcript: ENST00000524500
  gene symbol: CTSB
  hgvsc: ENST00000524500.1:c.230A>C
  hgvsp: ENSP00000436074.1:p.Asp77Ala
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.230A>C
  hgvsp: ENSP00000436456.1:p.Asp77Ala
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.230A>C
  hgvsp: ENSP00000435105.1:p.Asp77Ala
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.230A>C
  hgvsp: ENSP00000436122.1:p.Asp77Ala
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.230A>C
  hgvsp: ENSP00000435074.1:p.Asp77Ala
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.230A>C
  hgvsp: ENSP00000433995.1:p.Asp77Ala
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.230A>C
  hgvsp: ENSP00000432244.1:p.Asp77Ala
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.230A>C
  hgvsp: ENSP00000409917.2:p.Asp77Ala
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.230A>C
  hgvsp: ENSP00000436627.1:p.Asp77Ala
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.230A>C
  hgvsp: ENSP00000433215.1:p.Asp77Ala
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp77Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

8-11708476-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708476
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708476
    reference: chr 8
allele count: 2
allele frequency: 1.852846899260714e-5
allele num: 107942
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000532370
  gene symbol: CTSB
  hgvsc: ENST00000532370.1:n.591G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.226G>A
  hgvsp: ENSP00000431518.1:p.Glu76Lys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.226G>A
  hgvsp: ENSP00000435105.1:p.Glu76Lys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.226G>A
  hgvsp: ENSP00000433995.1:p.Glu76Lys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.226G>A
  hgvsp: ENSP00000436122.1:p.Glu76Lys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.226G>A
  hgvsp: ENSP00000435074.1:p.Glu76Lys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.226G>A
  hgvsp: ENSP00000409917.2:p.Glu76Lys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.309G>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.226G>A
  hgvsp: ENSP00000434217.1:p.Glu76Lys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.226G>A
  hgvsp: ENSP00000436627.1:p.Glu76Lys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.226G>A
  hgvsp: ENSP00000434725.1:p.Glu76Lys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.226G>A
  hgvsp: ENSP00000342070.3:p.Glu76Lys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.226G>A
  hgvsp: ENSP00000411254.2:p.Glu76Lys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436074
  ensembl transcript: ENST00000524500
  gene symbol: CTSB
  hgvsc: ENST00000524500.1:c.226G>A
  hgvsp: ENSP00000436074.1:p.Glu76Lys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.226G>A
  hgvsp: ENSP00000345672.5:p.Glu76Lys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.226G>A
  hgvsp: ENSP00000436456.1:p.Glu76Lys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.226G>A
  hgvsp: ENSP00000415889.1:p.Glu76Lys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435886
  ensembl transcript: ENST00000531502
  gene symbol: CTSB
  hgvsc: ENST00000531502.1:c.226G>A
  hgvsp: ENSP00000435886.1:p.Glu76Lys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.226G>A
  hgvsp: ENSP00000436159.1:p.Glu76Lys
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu76Lys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

8-11708477-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708477
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708477
    reference: chr 8
allele count: 11
allele frequency: 1.025143986132598e-4
allele num: 107302
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.225C>T
  hgvsp: ENST00000534149.1:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.225C>T
  hgvsp: ENST00000533455.1:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.225C>T
  hgvsp: ENST00000534636.1:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435650
  ensembl transcript: ENST00000505496
  gene symbol: CTSB
  hgvsc: ENST00000505496.2:c.225C>T
  hgvsp: ENST00000505496.2:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.233C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435886
  ensembl transcript: ENST00000531502
  gene symbol: CTSB
  hgvsc: ENST00000531502.1:c.225C>T
  hgvsp: ENST00000531502.1:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.225C>T
  hgvsp: ENST00000453527.2:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.225C>T
  hgvsp: ENST00000530640.2:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.225C>T
  hgvsp: ENST00000345125.3:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.225C>T
  hgvsp: ENST00000530296.1:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.308C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.225C>T
  hgvsp: ENST00000526645.1:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.225C>T
  hgvsp: ENST00000353047.6:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.225C>T
  hgvsp: ENST00000534510.1:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.225C>T
  hgvsp: ENST00000531089.1:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.225C>T
  hgvsp: ENST00000533572.1:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436074
  ensembl transcript: ENST00000524500
  gene symbol: CTSB
  hgvsc: ENST00000524500.1:c.225C>T
  hgvsp: ENST00000524500.1:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.225C>T
  hgvsp: ENST00000434271.1:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.225C>T
  hgvsp: ENST00000531551.1:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr75Thr
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS

8-11708479-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708479
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708479
    reference: chr 8
allele count: 275
allele frequency: 2.601112330218304e-3
allele num: 105724
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435650
  ensembl transcript: ENST00000505496
  gene symbol: CTSB
  hgvsc: ENST00000505496.2:c.223A>G
  hgvsp: ENSP00000435650.1:p.Thr75Ala
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.223A>G
  hgvsp: ENSP00000434217.1:p.Thr75Ala
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.306A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.223A>G
  hgvsp: ENSP00000431518.1:p.Thr75Ala
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.223A>G
  hgvsp: ENSP00000433995.1:p.Thr75Ala
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435886
  ensembl transcript: ENST00000531502
  gene symbol: CTSB
  hgvsc: ENST00000531502.1:c.223A>G
  hgvsp: ENSP00000435886.1:p.Thr75Ala
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.223A>G
  hgvsp: ENSP00000435074.1:p.Thr75Ala
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.223A>G
  hgvsp: ENSP00000415889.1:p.Thr75Ala
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.223A>G
  hgvsp: ENSP00000345672.5:p.Thr75Ala
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.223A>G
  hgvsp: ENSP00000342070.3:p.Thr75Ala
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.223A>G
  hgvsp: ENSP00000434725.1:p.Thr75Ala
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.223A>G
  hgvsp: ENSP00000411254.2:p.Thr75Ala
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.223A>G
  hgvsp: ENSP00000409917.2:p.Thr75Ala
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.223A>G
  hgvsp: ENSP00000436627.1:p.Thr75Ala
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.223A>G
  hgvsp: ENSP00000435105.1:p.Thr75Ala
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.223A>G
  hgvsp: ENSP00000432244.1:p.Thr75Ala
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.231A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436074
  ensembl transcript: ENST00000524500
  gene symbol: CTSB
  hgvsc: ENST00000524500.1:c.223A>G
  hgvsp: ENSP00000436074.1:p.Thr75Ala
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.223A>G
  hgvsp: ENSP00000436159.1:p.Thr75Ala
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr75Ala
num of homozygotes: 1
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

8-11708482-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708482
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708482
    reference: chr 8
allele count: 1
allele frequency: 9.598955633627061e-6
allele num: 104178
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.220T>C
  hgvsp: ENSP00000436122.1:p.Phe74Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.220T>C
  hgvsp: ENSP00000345672.5:p.Phe74Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.220T>C
  hgvsp: ENSP00000433995.1:p.Phe74Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.220T>C
  hgvsp: ENSP00000436627.1:p.Phe74Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.220T>C
  hgvsp: ENSP00000435074.1:p.Phe74Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.220T>C
  hgvsp: ENSP00000432244.1:p.Phe74Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.220T>C
  hgvsp: ENSP00000435105.1:p.Phe74Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.220T>C
  hgvsp: ENSP00000342070.3:p.Phe74Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.220T>C
  hgvsp: ENSP00000434725.1:p.Phe74Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.303T>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.220T>C
  hgvsp: ENSP00000409917.2:p.Phe74Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.220T>C
  hgvsp: ENSP00000433215.1:p.Phe74Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435650
  ensembl transcript: ENST00000505496
  gene symbol: CTSB
  hgvsc: ENST00000505496.2:c.220T>C
  hgvsp: ENSP00000435650.1:p.Phe74Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.220T>C
  hgvsp: ENSP00000431518.1:p.Phe74Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435886
  ensembl transcript: ENST00000531502
  gene symbol: CTSB
  hgvsc: ENST00000531502.1:c.220T>C
  hgvsp: ENSP00000435886.1:p.Phe74Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.220T>C
  hgvsp: ENSP00000434217.1:p.Phe74Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.228T>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.220T>C
  hgvsp: ENSP00000436456.1:p.Phe74Leu
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.220T>C
  hgvsp: ENSP00000436159.1:p.Phe74Leu
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Phe74Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/8-11708484-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708484
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708484
    reference: chr 8
allele count: 1
allele frequency: 1.002767638682764e-5
allele num: 99724
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.218T>G
  hgvsp: ENSP00000433995.1:p.Met73Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.226T>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.218T>G
  hgvsp: ENSP00000431518.1:p.Met73Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000532370
  gene symbol: CTSB
  hgvsc: ENST00000532370.1:n.583T>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.218T>G
  hgvsp: ENSP00000434725.1:p.Met73Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.218T>G
  hgvsp: ENSP00000432244.1:p.Met73Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.218T>G
  hgvsp: ENSP00000435105.1:p.Met73Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.218T>G
  hgvsp: ENSP00000434217.1:p.Met73Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.218T>G
  hgvsp: ENSP00000345672.5:p.Met73Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.218T>G
  hgvsp: ENSP00000415889.1:p.Met73Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.218T>G
  hgvsp: ENSP00000436627.1:p.Met73Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.218T>G
  hgvsp: ENSP00000409917.2:p.Met73Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435886
  ensembl transcript: ENST00000531502
  gene symbol: CTSB
  hgvsc: ENST00000531502.1:c.218T>G
  hgvsp: ENSP00000435886.1:p.Met73Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.218T>G
  hgvsp: ENSP00000433215.1:p.Met73Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.218T>G
  hgvsp: ENSP00000342070.3:p.Met73Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.218T>G
  hgvsp: ENSP00000435074.1:p.Met73Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.218T>G
  hgvsp: ENSP00000411254.2:p.Met73Arg
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.301T>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.218T>G
  hgvsp: ENSP00000436159.1:p.Met73Arg
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Met73Arg
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

8-11708484-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708484
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708484
    reference: chr 8
allele count: 5
allele frequency: 5.013838193413822e-5
allele num: 99724
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435650
  ensembl transcript: ENST00000505496
  gene symbol: CTSB
  hgvsc: ENST00000505496.2:c.218T>C
  hgvsp: ENSP00000435650.1:p.Met73Thr
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.301T>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.218T>C
  hgvsp: ENSP00000434217.1:p.Met73Thr
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.218T>C
  hgvsp: ENSP00000345672.5:p.Met73Thr
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.218T>C
  hgvsp: ENSP00000436159.1:p.Met73Thr
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.218T>C
  hgvsp: ENSP00000436627.1:p.Met73Thr
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.218T>C
  hgvsp: ENSP00000432244.1:p.Met73Thr
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.218T>C
  hgvsp: ENSP00000435074.1:p.Met73Thr
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.218T>C
  hgvsp: ENSP00000435105.1:p.Met73Thr
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.218T>C
  hgvsp: ENSP00000433995.1:p.Met73Thr
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436074
  ensembl transcript: ENST00000524500
  gene symbol: CTSB
  hgvsc: ENST00000524500.1:c.218T>C
  hgvsp: ENSP00000436074.1:p.Met73Thr
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.218T>C
  hgvsp: ENSP00000431518.1:p.Met73Thr
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435886
  ensembl transcript: ENST00000531502
  gene symbol: CTSB
  hgvsc: ENST00000531502.1:c.218T>C
  hgvsp: ENSP00000435886.1:p.Met73Thr
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.218T>C
  hgvsp: ENSP00000436456.1:p.Met73Thr
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.218T>C
  hgvsp: ENSP00000409917.2:p.Met73Thr
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.218T>C
  hgvsp: ENSP00000434725.1:p.Met73Thr
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.218T>C
  hgvsp: ENSP00000415889.1:p.Met73Thr
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000532370
  gene symbol: CTSB
  hgvsc: ENST00000532370.1:n.583T>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.218T>C
  hgvsp: ENSP00000342070.3:p.Met73Thr
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Met73Thr
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

8-11708484-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708484
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708484
    reference: chr 8
allele count: 2
allele frequency: 2.005535277365529e-5
allele num: 99724
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.218T>A
  hgvsp: ENSP00000432244.1:p.Met73Lys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.218T>A
  hgvsp: ENSP00000435105.1:p.Met73Lys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.218T>A
  hgvsp: ENSP00000431518.1:p.Met73Lys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.218T>A
  hgvsp: ENSP00000415889.1:p.Met73Lys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000532370
  gene symbol: CTSB
  hgvsc: ENST00000532370.1:n.583T>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435650
  ensembl transcript: ENST00000505496
  gene symbol: CTSB
  hgvsc: ENST00000505496.2:c.218T>A
  hgvsp: ENSP00000435650.1:p.Met73Lys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.218T>A
  hgvsp: ENSP00000436627.1:p.Met73Lys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.218T>A
  hgvsp: ENSP00000436159.1:p.Met73Lys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.218T>A
  hgvsp: ENSP00000434217.1:p.Met73Lys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.218T>A
  hgvsp: ENSP00000435074.1:p.Met73Lys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.218T>A
  hgvsp: ENSP00000436456.1:p.Met73Lys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.218T>A
  hgvsp: ENSP00000342070.3:p.Met73Lys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.301T>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.218T>A
  hgvsp: ENSP00000433995.1:p.Met73Lys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436074
  ensembl transcript: ENST00000524500
  gene symbol: CTSB
  hgvsc: ENST00000524500.1:c.218T>A
  hgvsp: ENSP00000436074.1:p.Met73Lys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.218T>A
  hgvsp: ENSP00000409917.2:p.Met73Lys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.218T>A
  hgvsp: ENSP00000434725.1:p.Met73Lys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.218T>A
  hgvsp: ENSP00000411254.2:p.Met73Lys
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.218T>A
  hgvsp: ENSP00000436122.1:p.Met73Lys
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Met73Lys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

8-11708493-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708493
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708493
    reference: chr 8
allele count: 1
allele frequency: 1.054763311112986e-5
allele num: 94808
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.213-4C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.213-4C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435886
  ensembl transcript: ENST00000531502
  gene symbol: CTSB
  hgvsc: ENST00000531502.1:c.213-4C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000532370
  gene symbol: CTSB
  hgvsc: ENST00000532370.1:n.578-4C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.213-4C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.213-4C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.213-4C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.213-4C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.213-4C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.213-4C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.221-4C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.213-4C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.213-4C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.213-4C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.213-4C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.213-4C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.213-4C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.213-4C>T
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.296-4C>T
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.213-4C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ

8-11708494-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708494
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708494
    reference: chr 8
allele count: 4
allele frequency: 4.217718635989793e-5
allele num: 94838
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.213-5T>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435886
  ensembl transcript: ENST00000531502
  gene symbol: CTSB
  hgvsc: ENST00000531502.1:c.213-5T>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.213-5T>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.213-5T>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.213-5T>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.213-5T>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.213-5T>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.213-5T>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.213-5T>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000532370
  gene symbol: CTSB
  hgvsc: ENST00000532370.1:n.578-5T>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.213-5T>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.213-5T>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435650
  ensembl transcript: ENST00000505496
  gene symbol: CTSB
  hgvsc: ENST00000505496.2:c.213-5T>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.296-5T>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.213-5T>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.213-5T>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.213-5T>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.213-5T>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.213-5T>C
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.213-5T>C
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

8-11708500-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708500
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708500
    reference: chr 8
allele count: 1
allele frequency: 1.109483868104558e-5
allele num: 90132
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.213-11C>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.213-11C>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.213-11C>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.213-11C>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.213-11C>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436074
  ensembl transcript: ENST00000524500
  gene symbol: CTSB
  hgvsc: ENST00000524500.1:c.213-11C>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.213-11C>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000532370
  gene symbol: CTSB
  hgvsc: ENST00000532370.1:n.578-11C>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.213-11C>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.213-11C>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435886
  ensembl transcript: ENST00000531502
  gene symbol: CTSB
  hgvsc: ENST00000531502.1:c.213-11C>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.213-11C>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.213-11C>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.213-11C>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.213-11C>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.221-11C>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.213-11C>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.296-11C>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.213-11C>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.213-11C>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435650
  ensembl transcript: ENST00000505496
  gene symbol: CTSB
  hgvsc: ENST00000505496.2:c.213-11C>A
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

8-11708503-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708503
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708503
    reference: chr 8
allele count: 2
allele frequency: 2.281282080529257e-5
allele num: 87670
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435650
  ensembl transcript: ENST00000505496
  gene symbol: CTSB
  hgvsc: ENST00000505496.2:c.213-14C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000532370
  gene symbol: CTSB
  hgvsc: ENST00000532370.1:n.578-14C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436074
  ensembl transcript: ENST00000524500
  gene symbol: CTSB
  hgvsc: ENST00000524500.1:c.213-14C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.213-14C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.221-14C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.213-14C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.213-14C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.213-14C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435886
  ensembl transcript: ENST00000531502
  gene symbol: CTSB
  hgvsc: ENST00000531502.1:c.213-14C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.213-14C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.213-14C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.296-14C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.213-14C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.213-14C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.213-14C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.213-14C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.213-14C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.213-14C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.213-14C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.213-14C>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.213-14C>G
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

8-11708507-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708507
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708507
    reference: chr 8
allele count: 1
allele frequency: 1.183936351581739e-5
allele num: 84464
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.213-18A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.213-18A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.213-18A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.296-18A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.213-18A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436074
  ensembl transcript: ENST00000524500
  gene symbol: CTSB
  hgvsc: ENST00000524500.1:c.213-18A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.213-18A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.213-18A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.213-18A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.213-18A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435650
  ensembl transcript: ENST00000505496
  gene symbol: CTSB
  hgvsc: ENST00000505496.2:c.213-18A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.213-18A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.221-18A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.213-18A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.213-18A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.213-18A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.213-18A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435886
  ensembl transcript: ENST00000531502
  gene symbol: CTSB
  hgvsc: ENST00000531502.1:c.213-18A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.213-18A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000532370
  gene symbol: CTSB
  hgvsc: ENST00000532370.1:n.578-18A>G
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.213-18A>G
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

8-11708507-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708507
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708507
    reference: chr 8
allele count: 9
allele frequency: 1.065542716423565e-4
allele num: 84464
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.213-18A>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435650
  ensembl transcript: ENST00000505496
  gene symbol: CTSB
  hgvsc: ENST00000505496.2:c.213-18A>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.213-18A>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.213-18A>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.213-18A>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.213-18A>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.213-18A>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.213-18A>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.221-18A>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.213-18A>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000532370
  gene symbol: CTSB
  hgvsc: ENST00000532370.1:n.578-18A>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.213-18A>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435886
  ensembl transcript: ENST00000531502
  gene symbol: CTSB
  hgvsc: ENST00000531502.1:c.213-18A>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.296-18A>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.213-18A>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.213-18A>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.213-18A>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.213-18A>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.213-18A>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.213-18A>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.213-18A>C
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

8-11708516-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708516
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708516
    reference: chr 8
allele count: 4
allele frequency: 5.280388636603654e-5
allele num: 75752
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.213-27T>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436074
  ensembl transcript: ENST00000524500
  gene symbol: CTSB
  hgvsc: ENST00000524500.1:c.213-27T>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.213-27T>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.213-27T>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.221-27T>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435886
  ensembl transcript: ENST00000531502
  gene symbol: CTSB
  hgvsc: ENST00000531502.1:c.213-27T>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.213-27T>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.213-27T>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.213-27T>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000409917
  ensembl transcript: ENST00000453527
  gene symbol: CTSB
  hgvsc: ENST00000453527.2:c.213-27T>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000532370
  gene symbol: CTSB
  hgvsc: ENST00000532370.1:n.578-27T>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.213-27T>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.213-27T>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.213-27T>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.296-27T>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435650
  ensembl transcript: ENST00000505496
  gene symbol: CTSB
  hgvsc: ENST00000505496.2:c.213-27T>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.213-27T>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.213-27T>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.213-27T>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.213-27T>C
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000415889
  ensembl transcript: ENST00000434271
  gene symbol: CTSB
  hgvsc: ENST00000434271.1:c.213-27T>C
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

8-11708516-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11708516
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 11708516
    reference: chr 8
allele count: 2
allele frequency: 2.640194318301827e-5
allele num: 75752
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525315
  gene symbol: CTSB
  hgvsc: ENST00000525315.1:n.221-27T>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436627
  ensembl transcript: ENST00000526195
  gene symbol: CTSB
  hgvsc: ENST00000526195.1:c.213-27T>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434217
  ensembl transcript: ENST00000534510
  gene symbol: CTSB
  hgvsc: ENST00000534510.1:c.213-27T>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000532370
  gene symbol: CTSB
  hgvsc: ENST00000532370.1:n.578-27T>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435650
  ensembl transcript: ENST00000505496
  gene symbol: CTSB
  hgvsc: ENST00000505496.2:c.213-27T>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435074
  ensembl transcript: ENST00000530296
  gene symbol: CTSB
  hgvsc: ENST00000530296.1:c.213-27T>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000342070
  ensembl transcript: ENST00000345125
  gene symbol: CTSB
  hgvsc: ENST00000345125.3:c.213-27T>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435886
  ensembl transcript: ENST00000531502
  gene symbol: CTSB
  hgvsc: ENST00000531502.1:c.213-27T>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000434725
  ensembl transcript: ENST00000527243
  gene symbol: CTSB
  hgvsc: ENST00000527243.1:c.213-27T>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436159
  ensembl transcript: ENST00000534636
  gene symbol: CTSB
  hgvsc: ENST00000534636.1:c.213-27T>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000431518
  ensembl transcript: ENST00000526645
  gene symbol: CTSB
  hgvsc: ENST00000526645.1:c.213-27T>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436456
  ensembl transcript: ENST00000531551
  gene symbol: CTSB
  hgvsc: ENST00000531551.1:c.213-27T>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000436122
  ensembl transcript: ENST00000534149
  gene symbol: CTSB
  hgvsc: ENST00000534149.1:c.213-27T>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433995
  ensembl transcript: ENST00000533572
  gene symbol: CTSB
  hgvsc: ENST00000533572.1:c.213-27T>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000411254
  ensembl transcript: ENST00000415599
  gene symbol: CTSB
  hgvsc: ENST00000415599.2:c.213-27T>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl transcript: ENST00000525076
  gene symbol: CTSB
  hgvsc: ENST00000525076.1:n.296-27T>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000435105
  ensembl transcript: ENST00000530640
  gene symbol: CTSB
  hgvsc: ENST00000530640.2:c.213-27T>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000432244
  ensembl transcript: ENST00000533455
  gene symbol: CTSB
  hgvsc: ENST00000533455.1:c.213-27T>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000433215
  ensembl transcript: ENST00000531089
  gene symbol: CTSB
  hgvsc: ENST00000531089.1:c.213-27T>A
  variant of: http://identifiers.org/hgnc/2527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164733
  ensembl protein: ENSP00000345672
  ensembl transcript: ENST00000353047
  gene symbol: CTSB
  hgvsc: ENST00000353047.6:c.213-27T>A
  variant of: http://identifiers.org/hgnc/2527
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: A

GenotypeDepth
all individuals: 70
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5784
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5712
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 14045
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 79
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3017
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1015
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 366
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 533
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2246
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1144
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5563
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1745
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5986
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23651
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5190
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4747
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2390
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 908
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3025
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 976
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5120
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4028
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3954
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27534
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 504
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.11e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 7.58267e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.29e-1

QD
type: SiteQuality
SIO_000300: 1.264e1

GenotypeDepth
all individuals: 234
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4466
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13711
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27095
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7132
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2451
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 368
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1099
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 538
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 824
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1265
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1513
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3975
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5866
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25215
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5103
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7011
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2805
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1765
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1541
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4250
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10708
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4030
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.501891021151422e-5
allele num: 28556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5260
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3672
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.133e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

DP
type: SiteQuality
SIO_000300: 7.85652e5

VQSLOD
type: SiteQuality
SIO_000300: 3.57e0

MQRankSum
type: SiteQuality
SIO_000300: -2.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.299999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

QD
type: SiteQuality
SIO_000300: 1.644e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

MQ
type: SiteQuality
SIO_000300: 5.805e1

GenotypeDepth
all individuals: 207
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13711
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 27095
bin: 7.5e0
variant carriers: 5

GenotypeDepth
all individuals: 2598
bin: 1.75e1
variant carriers: 4

GenotypeDepth
all individuals: 100
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7132
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4466
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 234
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 538
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1099
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 368
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7011
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 179
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1513
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1265
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 824
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25215
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5866
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5103
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2805
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3975
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1541
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1765
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 616
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.867762420620097e-4
allele num: 10708
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 7.003782042302843e-5
allele num: 28556
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 3.891050583657588e-3
allele num: 514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3672
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4030
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.901140684410646e-4
allele num: 5260
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

DP
type: SiteQuality
SIO_000300: 7.85652e5

FS
type: SiteQuality
SIO_000300: 2.133e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.299999999999999e-3

MQ
type: SiteQuality
SIO_000300: 5.805e1

MQRankSum
type: SiteQuality
SIO_000300: -2.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.57e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

QD
type: SiteQuality
SIO_000300: 1.644e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

GenotypeDepth
all individuals: 10447
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2368
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 80
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 373
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 208
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3172
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12190
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2384
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 553
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1268
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 234
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4661
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1601
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1766
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 25830
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 785
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1253
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2304
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9768
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5180
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2301
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 589
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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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 31246
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4216
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 8.939746111210442e-5
allele num: 11186
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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -7.51e-1

BaseQRankSum
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SIO_000300: 7.96e-1

QD
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SIO_000300: 5.13e0

VQSLOD
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SIO_000300: -2.003e0

ClippingRankSum
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SIO_000300: -7.51e-1

ReadPosRankSum
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SIO_000300: 7.51e-1

FS
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SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.54462e5

GenotypeDepth
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bin: 1.75e1
variant carriers: 2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1128
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 6.358491765753163e-5
allele num: 31454
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.754385964912281e-4
allele num: 5700
num of homozygotes: 0

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

Latino
type: Population
allele count: 4
allele frequency: 8.190008190008191e-4
allele num: 4884
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.01e-1

InbreedingCoeff
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SIO_000300: -7.6e-3

DP
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SIO_000300: 8.6536e5

VQSLOD
type: SiteQuality
SIO_000300: 2.44e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
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SIO_000300: 2.59e-1

FS
type: SiteQuality
SIO_000300: 2.131e0

BaseQRankSum
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SIO_000300: -2.84e0

QD
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SIO_000300: 1.198e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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
all individuals: 790
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GenotypeQuality
all individuals: 175
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5224
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 4.516711833785004e-4
allele num: 4428
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.700680272108843e-4
allele num: 5880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.050454517723141e-5
allele num: 32782
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4310
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.751969193068441e-5
allele num: 11426
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.92332e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.55e-1

BaseQRankSum
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SIO_000300: 1.54e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: -6.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.55e0

QD
type: SiteQuality
SIO_000300: 1.403e1

MQ
type: SiteQuality
SIO_000300: 5.955e1

MQRankSum
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SIO_000300: 0.0e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 974
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6222
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.990445859872612e-4
allele num: 5024
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 36722
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6328
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4638
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MQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

InbreedingCoeff
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ReadPosRankSum
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MQ
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BaseQRankSum
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DP
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FS
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VQSLOD
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ClippingRankSum
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SIO_000300: -3.22e-1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5136
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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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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South Asian
type: Population
allele count: 1
allele frequency: 8.318083513558476e-5
allele num: 12022
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6388
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37364
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4684
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 8.318083513558476e-4
allele num: 12022
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.294e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

DP
type: SiteQuality
SIO_000300: 9.81979e5

FS
type: SiteQuality
SIO_000300: 2.6879e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

QD
type: SiteQuality
SIO_000300: 1.383e1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.47e-1

GenotypeDepth
all individuals: 1016
bin: 4.25e1
variant carriers: 877

GenotypeDepth
all individuals: 430
bin: 2.5e0
variant carriers: 66

GenotypeDepth
all individuals: 5764
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variant carriers: 3479

GenotypeDepth
all individuals: 10652
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variant carriers: 9288

GenotypeDepth
all individuals: 1491
bin: 3.75e1
variant carriers: 1259

GenotypeDepth
all individuals: 697
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variant carriers: 620

GenotypeDepth
all individuals: 150
bin: 7.25e1
variant carriers: 122

GenotypeDepth
all individuals: 10986
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variant carriers: 7251

GenotypeDepth
all individuals: 197
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variant carriers: 167

GenotypeDepth
all individuals: 255
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variant carriers: 214

GenotypeDepth
all individuals: 13900
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variant carriers: 6435

GenotypeDepth
all individuals: 539
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variant carriers: 462

GenotypeDepth
all individuals: 73
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variant carriers: 61

GenotypeDepth
all individuals: 2550
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variant carriers: 1904

GenotypeDepth
all individuals: 383
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variant carriers: 375

GenotypeDepth
all individuals: 117
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variant carriers: 99

GenotypeDepth
all individuals: 90
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variant carriers: 83

GenotypeQuality
all individuals: 870
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variant carriers: 547

GenotypeQuality
all individuals: 9281
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variant carriers: 387

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
all individuals: 8580
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variant carriers: 683

GenotypeQuality
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variant carriers: 128

GenotypeQuality
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variant carriers: 269

GenotypeQuality
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variant carriers: 471

GenotypeQuality
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GenotypeQuality
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variant carriers: 879

GenotypeQuality
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GenotypeQuality
all individuals: 26218
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variant carriers: 25741

GenotypeQuality
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variant carriers: 422

GenotypeQuality
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variant carriers: 574

GenotypeQuality
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GenotypeQuality
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variant carriers: 873

GenotypeQuality
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GenotypeQuality
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variant carriers: 472

GenotypeQuality
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variant carriers: 832

GenotypeQuality
all individuals: 702
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variant carriers: 545

GenotypeQuality
all individuals: 825
bin: 7.75e1
variant carriers: 584

African
type: Population
allele count: 2958
allele frequency: 3.704909819639279e-1
allele num: 7984
num of homozygotes: 448

Latino
type: Population
allele count: 3671
allele frequency: 4.171590909090909e-1
allele num: 8800
num of homozygotes: 600

European (Finnish)
type: Population
allele count: 2221
allele frequency: 4.004688063469167e-1
allele num: 5546
num of homozygotes: 420

East Asian
type: Population
allele count: 3899
allele frequency: 5.415277777777778e-1
allele num: 7200
num of homozygotes: 914

Other
type: Population
allele count: 322
allele frequency: 4.259259259259259e-1
allele num: 756
num of homozygotes: 61

European (Non-Finnish)
type: Population
allele count: 21433
allele frequency: 4.206838344979195e-1
allele num: 50948
num of homozygotes: 3689

South Asian
type: Population
allele count: 5179
allele frequency: 3.739350180505415e-1
allele num: 13850
num of homozygotes: 910

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e0

VQSLOD
type: SiteQuality
SIO_000300: 4.62e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

DP
type: SiteQuality
SIO_000300: 1.229516e6

QD
type: SiteQuality
SIO_000300: 1.922e1

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-2

GenotypeDepth
all individuals: 180
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9128
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variant carriers: 3

GenotypeDepth
all individuals: 251
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variant carriers: 0

GenotypeDepth
all individuals: 29
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variant carriers: 0

GenotypeDepth
all individuals: 2604
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variant carriers: 0

GenotypeDepth
all individuals: 148
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variant carriers: 0

GenotypeDepth
all individuals: 46
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variant carriers: 0

GenotypeDepth
all individuals: 6968
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variant carriers: 1

GenotypeDepth
all individuals: 8641
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variant carriers: 0

GenotypeDepth
all individuals: 22
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GenotypeDepth
all individuals: 21
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variant carriers: 0

GenotypeDepth
all individuals: 546
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GenotypeDepth
all individuals: 260
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GenotypeDepth
all individuals: 78
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variant carriers: 0

GenotypeDepth
all individuals: 9000
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variant carriers: 0

GenotypeDepth
all individuals: 104
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variant carriers: 0

GenotypeDepth
all individuals: 74
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variant carriers: 0

GenotypeQuality
all individuals: 280
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variant carriers: 0

GenotypeQuality
all individuals: 1376
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variant carriers: 0

GenotypeQuality
all individuals: 3775
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variant carriers: 0

GenotypeQuality
all individuals: 1801
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variant carriers: 6

GenotypeQuality
all individuals: 2738
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variant carriers: 0

GenotypeQuality
all individuals: 3029
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GenotypeQuality
all individuals: 1897
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variant carriers: 1

GenotypeQuality
all individuals: 97
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GenotypeQuality
all individuals: 309
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variant carriers: 0

GenotypeQuality
all individuals: 197
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9519
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variant carriers: 0

GenotypeQuality
all individuals: 2414
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GenotypeQuality
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GenotypeQuality
all individuals: 785
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GenotypeQuality
all individuals: 449
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GenotypeQuality
all individuals: 278
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GenotypeQuality
all individuals: 26402
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variant carriers: 0

GenotypeQuality
all individuals: 191
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variant carriers: 0

GenotypeQuality
all individuals: 789
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9930
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 7.761966364812419e-4
allele num: 7730
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.58564308508731e-5
allele num: 55778
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5960
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14284
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

DP
type: SiteQuality
SIO_000300: 1.216858e6

FS
type: SiteQuality
SIO_000300: 2.269e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.298e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.8e-3

QD
type: SiteQuality
SIO_000300: 2.963e1

GenotypeDepth
all individuals: 2593
bin: 3.25e1
variant carriers: 36

GenotypeDepth
all individuals: 80
bin: 9.75e1
variant carriers: 17

GenotypeDepth
all individuals: 8248
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variant carriers: 22

GenotypeDepth
all individuals: 22411
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variant carriers: 76

GenotypeDepth
all individuals: 34
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variant carriers: 5

GenotypeDepth
all individuals: 269
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variant carriers: 12

GenotypeDepth
all individuals: 22
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variant carriers: 2

GenotypeDepth
all individuals: 8909
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variant carriers: 70

GenotypeDepth
all individuals: 25
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variant carriers: 3

GenotypeDepth
all individuals: 872
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variant carriers: 20

GenotypeDepth
all individuals: 6358
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variant carriers: 114

GenotypeDepth
all individuals: 153
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variant carriers: 12

GenotypeDepth
all individuals: 370
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variant carriers: 19

GenotypeDepth
all individuals: 81
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variant carriers: 6

GenotypeDepth
all individuals: 551
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variant carriers: 21

GenotypeDepth
all individuals: 109
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variant carriers: 6

GenotypeDepth
all individuals: 9164
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variant carriers: 49

GenotypeQuality
all individuals: 3560
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variant carriers: 1

GenotypeQuality
all individuals: 99
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variant carriers: 0

GenotypeQuality
all individuals: 2403
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variant carriers: 0

GenotypeQuality
all individuals: 2308
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variant carriers: 0

GenotypeQuality
all individuals: 1023
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variant carriers: 2

GenotypeQuality
all individuals: 217
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variant carriers: 0

GenotypeQuality
all individuals: 331
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variant carriers: 1

GenotypeQuality
all individuals: 9152
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variant carriers: 1

GenotypeQuality
all individuals: 3048
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variant carriers: 2

GenotypeQuality
all individuals: 790
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variant carriers: 5

GenotypeQuality
all individuals: 1727
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variant carriers: 1

GenotypeQuality
all individuals: 265
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variant carriers: 1

GenotypeQuality
all individuals: 277
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variant carriers: 5

GenotypeQuality
all individuals: 168
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variant carriers: 1

GenotypeQuality
all individuals: 790
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variant carriers: 6

GenotypeQuality
all individuals: 3613
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variant carriers: 1

GenotypeQuality
all individuals: 451
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variant carriers: 7

GenotypeQuality
all individuals: 194
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variant carriers: 6

GenotypeQuality
all individuals: 28098
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variant carriers: 0

GenotypeQuality
all individuals: 2192
bin: 9.75e1
variant carriers: 457

African
type: Population
allele count: 452
allele frequency: 5.121232721504645e-2
allele num: 8826
num of homozygotes: 9

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7796
num of homozygotes: 0

Latino
type: Population
allele count: 15
allele frequency: 1.497304851267718e-3
allele num: 10018
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.489862701856726e-4
allele num: 56228
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.397428731134712e-4
allele num: 14312
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5974
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.231367e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.73e-2

FS
type: SiteQuality
SIO_000300: 2.065e0

VQSLOD
type: SiteQuality
SIO_000300: 3.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-2

QD
type: SiteQuality
SIO_000300: 1.429e1

GenotypeDepth
all individuals: 541
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variant carriers: 0

GenotypeDepth
all individuals: 46
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GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
all individuals: 23023
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GenotypeDepth
all individuals: 24
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GenotypeDepth
all individuals: 184
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GenotypeDepth
all individuals: 222
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GenotypeDepth
all individuals: 8731
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variant carriers: 3

GenotypeDepth
all individuals: 364
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GenotypeDepth
all individuals: 2638
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GenotypeDepth
all individuals: 260
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GenotypeDepth
all individuals: 30
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GenotypeDepth
all individuals: 5978
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GenotypeDepth
all individuals: 68
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GenotypeDepth
all individuals: 20
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GenotypeQuality
all individuals: 209
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GenotypeQuality
all individuals: 281
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GenotypeQuality
all individuals: 975
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2272
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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: 12

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8970
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 385
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GenotypeQuality
all individuals: 796
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GenotypeQuality
all individuals: 805
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GenotypeQuality
all individuals: 2280
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GenotypeQuality
all individuals: 3557
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variant carriers: 0

GenotypeQuality
all individuals: 450
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GenotypeQuality
all individuals: 1714
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8846
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14390
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5990
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.930486593843098e-5
allele num: 10070
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7798
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 2.123367661110521e-4
allele num: 56514
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.83e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.2e0

MQRankSum
type: SiteQuality
SIO_000300: 3.06e-1

DP
type: SiteQuality
SIO_000300: 1.235645e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-2

QD
type: SiteQuality
SIO_000300: 1.369e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
all individuals: 20
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GenotypeDepth
all individuals: 545
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GenotypeDepth
all individuals: 46
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GenotypeDepth
all individuals: 184
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GenotypeDepth
all individuals: 9412
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GenotypeQuality
all individuals: 3496
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GenotypeQuality
all individuals: 161
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GenotypeQuality
all individuals: 8738
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GenotypeQuality
all individuals: 3126
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GenotypeQuality
all individuals: 404
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GenotypeQuality
all individuals: 441
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GenotypeQuality
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GenotypeQuality
all individuals: 799
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GenotypeQuality
all individuals: 67
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GenotypeQuality
all individuals: 227
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GenotypeQuality
all individuals: 2237
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GenotypeQuality
all individuals: 208
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GenotypeQuality
all individuals: 3481
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GenotypeQuality
all individuals: 278
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GenotypeQuality
all individuals: 195
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GenotypeQuality
all individuals: 29524
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GenotypeQuality
all individuals: 1771
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GenotypeQuality
all individuals: 1639
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variant carriers: 0

GenotypeQuality
all individuals: 802
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variant carriers: 0

GenotypeQuality
all individuals: 988
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8894
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6004
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.922331441229406e-5
allele num: 14446
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56790
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.058e0

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-2

DP
type: SiteQuality
SIO_000300: 1.242412e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

FS
type: SiteQuality
SIO_000300: 2.127e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

GenotypeDepth
all individuals: 23739
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 75
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9568
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 260
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 362
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8446
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 544
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 202
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2680
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7707
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 876
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 147
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5624
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 67
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8558
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 784
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28313
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1437
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1292
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2140
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 789
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1775
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3509
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3438
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2262
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1641
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3092
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6024
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.273890724984178e-5
allele num: 56884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7874
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8908
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.859988168014199e-5
allele num: 10142
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.294e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.32e-1

DP
type: SiteQuality
SIO_000300: 1.247501e6

VQSLOD
type: SiteQuality
SIO_000300: -5.629999999999999e-1

FS
type: SiteQuality
SIO_000300: 9.967000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.102e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

GenotypeDepth
all individuals: 361
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2690
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 546
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 67
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8293
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 876
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5360
bin: 1.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 24153
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7535
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9749
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 148
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1336
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3455
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 784
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1580
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29471
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3354
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2210
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2030
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8408
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3114
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1773
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 790
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 1.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14478
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6046
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8926
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.498950314905528e-5
allele num: 57160
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7888
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.08e-1

DP
type: SiteQuality
SIO_000300: 1.254457e6

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 4.47e0

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.05e-1

QD
type: SiteQuality
SIO_000300: 1.146e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.23e0

GenotypeDepth
all individuals: 30
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 166
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4786
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 148
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 542
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 183
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2723
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7143
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7878
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10008
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 873
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25268
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 67
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 261
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3121
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3285
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3177
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1774
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1772
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2119
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31452
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8031
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1041
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 798
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1402
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6084
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.860592755214051e-5
allele num: 14576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57722
num of homozygotes: 0

Latino
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: 7972
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8998
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.798e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.708e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.289e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.88e0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

VQSLOD
type: SiteQuality
SIO_000300: -3.893e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.957e0

DP
type: SiteQuality
SIO_000300: 1.268759e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000164733
ensembl transcript: ENST00000525076
gene symbol: CTSB
hgvsc: ENST00000525076.1:n.410G>C
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000436122
ensembl transcript: ENST00000534149
gene symbol: CTSB
hgvsc: ENST00000534149.1:c.327G>C
hgvsp: ENSP00000436122.1:p.Trp109Cys
variant of: http://identifiers.org/hgnc/2527

GenotypeDepth
all individuals: 3819
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2795
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27260
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 183
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6444
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 546
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 875
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7039
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 67
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 148
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10480
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1165
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3009
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1459
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2706
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7269
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1097
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33136
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1773
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 444
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3252
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1927
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8052
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6152
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9138
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10430
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58668
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.796248470844094e-5
allele num: 14714
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.887e0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

DP
type: SiteQuality
SIO_000300: 1.296019e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.269e0

VQSLOD
type: SiteQuality
SIO_000300: 1.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.65e-1

QD
type: SiteQuality
SIO_000300: 1.238e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000164733
ensembl transcript: ENST00000532370
gene symbol: CTSB
hgvsc: ENST00000532370.1:n.690T>C
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000164733
ensembl transcript: ENST00000525315
gene symbol: CTSB
hgvsc: ENST00000525315.1:n.333T>C
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000415889
ensembl transcript: ENST00000434271
gene symbol: CTSB
hgvsc: ENST00000434271.1:c.325T>C
hgvsp: ENSP00000415889.1:p.Trp109Arg
variant of: http://identifiers.org/hgnc/2527

GenotypeDepth
all individuals: 3438
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 872
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 541
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2781
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 148
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6673
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6170
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 28045
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10751
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 183
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1825
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2448
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6996
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1273
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 799
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2869
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1031
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1772
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 801
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35181
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3331
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8096
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10486
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14796
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.691474966170501e-5
allele num: 59120
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6178
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9198
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.139e0

QD
type: SiteQuality
SIO_000300: 7.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.268e0

DP
type: SiteQuality
SIO_000300: 1.306764e6

MQ
type: SiteQuality
SIO_000300: 5.94e1

FS
type: SiteQuality
SIO_000300: 4.1e0

VQSLOD
type: SiteQuality
SIO_000300: -4.322e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.651e0

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000342070
ensembl transcript: ENST00000345125
gene symbol: CTSB
hgvsc: ENST00000345125.3:c.324C>T
hgvsp: ENST00000345125.3:c.324C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2527

GenotypeDepth
all individuals: 2849
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 113
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6011
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 29
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 543
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28346
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 105
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 148
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6493
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 67
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10880
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3280
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 184
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 872
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2383
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 789
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1194
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6850
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1773
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 127
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1012
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35744
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2810
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 453
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1782
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3310
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8098
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10510
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.350256548744261e-4
allele num: 14812
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.689417488849845e-5
allele num: 59192
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9200
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6186
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.915e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.15e-1

QD
type: SiteQuality
SIO_000300: 1.052e1

VQSLOD
type: SiteQuality
SIO_000300: -3.667e-1

DP
type: SiteQuality
SIO_000300: 1.313132e6

MQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.205e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

FS
type: SiteQuality
SIO_000300: 7.045e0

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000436456
ensembl transcript: ENST00000531551
gene symbol: CTSB
hgvsc: ENST00000531551.1:c.318C>T
hgvsp: ENST00000531551.1:c.318C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2527

GenotypeDepth
all individuals: 75
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 540
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5275
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5458
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2882
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 81
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11834
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 148
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 873
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2643
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 184
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 29801
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 67
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 970
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1771
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 37966
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6083
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2398
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 816
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1555
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3429
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 837
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1891
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 781
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.071581654522075e-4
allele num: 9332
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14948
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6256
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60302
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8180
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10674
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.79e0

QD
type: SiteQuality
SIO_000300: 2.021e1

MQRankSum
type: SiteQuality
SIO_000300: 1.37e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.34408e6

VQSLOD
type: SiteQuality
SIO_000300: 2.62e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000411254
ensembl transcript: ENST00000415599
gene symbol: CTSB
hgvsc: ENST00000415599.2:c.316G>T
hgvsp: ENSP00000411254.2:p.Gly106Cys
variant of: http://identifiers.org/hgnc/2527

GenotypeDepth
all individuals: 2274
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 149
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12067
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 877
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30678
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4962
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 67
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 183
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2908
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 540
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5005
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3503
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2180
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 194
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1627
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1770
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1458
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5731
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39288
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 829
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.646253127880943e-5
allele num: 60744
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15014
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8220
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9380
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6280
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10726
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.356504e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

QD
type: SiteQuality
SIO_000300: 8.039999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.298e0

Annotation
canonical: false
consequence: frameshift_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000415889
ensembl transcript: ENST00000434271
gene symbol: CTSB
hgvsc: ENST00000434271.1:c.313delT
hgvsp: ENSP00000415889.1:p.Cys105ValfsTer73
variant of: http://identifiers.org/hgnc/2527

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 880
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4436
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2934
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12281
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 362
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4635
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 67
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 540
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 106
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31712
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1902
bin: 1.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 281
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5345
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3561
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40717
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1329
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1773
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 459
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 848
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1894
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1399
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8256
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.268187463232891e-5
allele num: 61196
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15062
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6298
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10788
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9420
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e-1

QD
type: SiteQuality
SIO_000300: 2.773e1

DP
type: SiteQuality
SIO_000300: 1.369998e6

MQ
type: SiteQuality
SIO_000300: 5.978e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.52e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.462e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.055e0

FS
type: SiteQuality
SIO_000300: 6.904e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.6e-2

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000164733
ensembl transcript: ENST00000532370
gene symbol: CTSB
hgvsc: ENST00000532370.1:n.677C>T
variant of: http://identifiers.org/hgnc/2527

GenotypeDepth
all individuals: 55
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2965
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1659
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 538
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3986
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 183
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 874
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32405
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4342
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12561
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 29
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1212
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3614
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41497
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5020
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1697
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1208
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1768
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 854
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10828
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8308
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15110
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61576
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.055520371543171e-4
allele num: 9474
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.381294e6

QD
type: SiteQuality
SIO_000300: 2.015e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.757e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-1

FS
type: SiteQuality
SIO_000300: 7.01e0

VQSLOD
type: SiteQuality
SIO_000300: -4.454e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000436159
ensembl transcript: ENST00000534636
gene symbol: CTSB
hgvsc: ENST00000534636.1:c.304C>G
hgvsp: ENSP00000436159.1:p.Gln102Glu
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000415889
ensembl transcript: ENST00000434271
gene symbol: CTSB
hgvsc: ENST00000434271.1:c.304C>G
hgvsp: ENSP00000415889.1:p.Gln102Glu
variant of: http://identifiers.org/hgnc/2527

GenotypeDepth
all individuals: 260
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13337
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34215
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 67
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 888
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 183
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 540
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1077
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2789
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3436
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 361
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3073
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 885
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 904
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4043
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1174
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 847
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1767
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 722
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3800
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43947
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.592001783041997e-5
allele num: 62814
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6400
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8410
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 3.893e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.59e0

DP
type: SiteQuality
SIO_000300: 1.414495e6

MQRankSum
type: SiteQuality
SIO_000300: 7.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.11e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000342070
ensembl transcript: ENST00000345125
gene symbol: CTSB
hgvsc: ENST00000345125.3:c.297C>G
hgvsp: ENSP00000342070.3:p.Ile99Met
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000164733
ensembl transcript: ENST00000525315
gene symbol: CTSB
hgvsc: ENST00000525315.1:n.305C>G
variant of: http://identifiers.org/hgnc/2527

GenotypeDepth
all individuals: 763
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13949
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1984
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3129
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 892
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2772
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 183
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 67
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 105
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 543
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 35331
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 902
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 942
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 778
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3935
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1774
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 321
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3317
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45467
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.425959091337543e-5
allele num: 63654
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15380
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11098
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.24e0

MQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

DP
type: SiteQuality
SIO_000300: 1.438104e6

QD
type: SiteQuality
SIO_000300: 1.438e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e-1

MQ
type: SiteQuality
SIO_000300: 5.987e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000164733
ensembl transcript: ENST00000532370
gene symbol: CTSB
hgvsc: ENST00000532370.1:n.659G>A
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000164733
ensembl transcript: ENST00000525315
gene symbol: CTSB
hgvsc: ENST00000525315.1:n.302G>A
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000345672
ensembl transcript: ENST00000353047
gene symbol: CTSB
hgvsc: ENST00000353047.6:c.294G>A
hgvsp: ENST00000353047.6:c.294G>A(p.%3D)
variant of: http://identifiers.org/hgnc/2527

GenotypeDepth
all individuals: 3142
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35751
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2538
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 261
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1692
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 887
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 14136
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 679
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 542
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3057
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 953
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1769
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4002
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 919
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46365
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15424
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63984
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.018122581958868e-4
allele num: 9822
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11134
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.248e0

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

DP
type: SiteQuality
SIO_000300: 1.445853e6

FS
type: SiteQuality
SIO_000300: 4.008e0

QD
type: SiteQuality
SIO_000300: 9.699999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.51e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000164733
ensembl transcript: ENST00000525315
gene symbol: CTSB
hgvsc: ENST00000525315.1:n.297A>G
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000164733
ensembl transcript: ENST00000525076
gene symbol: CTSB
hgvsc: ENST00000525076.1:n.372A>G
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000415889
ensembl transcript: ENST00000434271
gene symbol: CTSB
hgvsc: ENST00000434271.1:c.289A>G
hgvsp: ENSP00000415889.1:p.Lys97Glu
variant of: http://identifiers.org/hgnc/2527

GenotypeDepth
all individuals: 149
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 880
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2300
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1430
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 540
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3148
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 14369
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36044
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 661
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 436
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2815
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 161
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1770
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4047
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 933
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 965
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46578
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9852
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15490
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.172332942555686e-4
allele num: 8530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11176
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64328
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.43e0

MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

QD
type: SiteQuality
SIO_000300: 1.125e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.453438e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000415889
ensembl transcript: ENST00000434271
gene symbol: CTSB
hgvsc: ENST00000434271.1:c.286A>G
hgvsp: ENSP00000415889.1:p.Ile96Val
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000433215
ensembl transcript: ENST00000531089
gene symbol: CTSB
hgvsc: ENST00000531089.1:c.286A>G
hgvsp: ENSP00000433215.1:p.Ile96Val
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000436159
ensembl transcript: ENST00000534636
gene symbol: CTSB
hgvsc: ENST00000534636.1:c.286A>G
hgvsp: ENSP00000436159.1:p.Ile96Val
variant of: http://identifiers.org/hgnc/2527

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1341
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3182
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 14544
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 666
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 885
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2208
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 539
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36010
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 968
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46762
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2730
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 198
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1771
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 291
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 940
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4057
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15508
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.934953538241601e-5
allele num: 11192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9862
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.409999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.21e1

MQ
type: SiteQuality
SIO_000300: 5.948e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.82e-1

FS
type: SiteQuality
SIO_000300: 3.11e0

MQRankSum
type: SiteQuality
SIO_000300: 8.75e-1

DP
type: SiteQuality
SIO_000300: 1.457412e6

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000345672
ensembl transcript: ENST00000353047
gene symbol: CTSB
hgvsc: ENST00000353047.6:c.284C>T
hgvsp: ENSP00000345672.5:p.Thr95Ile
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000434725
ensembl transcript: ENST00000527243
gene symbol: CTSB
hgvsc: ENST00000527243.1:c.284C>T
hgvsp: ENSP00000434725.1:p.Thr95Ile
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000164733
ensembl transcript: ENST00000532370
gene symbol: CTSB
hgvsc: ENST00000532370.1:n.649C>T
variant of: http://identifiers.org/hgnc/2527

GenotypeDepth
all individuals: 74
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 731
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 362
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 14758
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 260
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1342
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35707
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 544
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2194
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 885
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3214
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1772
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 310
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45843
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 860
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2752
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4030
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 970
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 938
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15504
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.015022330491271e-4
allele num: 9852
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551686683424883e-5
allele num: 64446
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.917e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.74e0

DP
type: SiteQuality
SIO_000300: 1.459412e6

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-2

FS
type: SiteQuality
SIO_000300: 9.582000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -9.998e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.4e-2

QD
type: SiteQuality
SIO_000300: 1.165e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000436122
ensembl transcript: ENST00000534149
gene symbol: CTSB
hgvsc: ENST00000534149.1:c.284C>G
hgvsp: ENSP00000436122.1:p.Thr95Ser
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000164733
ensembl transcript: ENST00000525315
gene symbol: CTSB
hgvsc: ENST00000525315.1:n.292C>G
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000435650
ensembl transcript: ENST00000505496
gene symbol: CTSB
hgvsc: ENST00000505496.2:c.284C>G
hgvsp: ENSP00000435650.1:p.Thr95Ser
variant of: http://identifiers.org/hgnc/2527

GenotypeDepth
all individuals: 1342
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3214
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35707
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 14758
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 731
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 544
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2194
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 885
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 362
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1772
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 286
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2752
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 860
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45843
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 970
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 938
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4030
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11192
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64446
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.449948400412796e-5
allele num: 15504
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 1.459412e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.4e-2

FS
type: SiteQuality
SIO_000300: 9.582000000000001e0

QD
type: SiteQuality
SIO_000300: 1.165e1

VQSLOD
type: SiteQuality
SIO_000300: -9.998e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.74e0

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQ
type: SiteQuality
SIO_000300: 5.917e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000434725
ensembl transcript: ENST00000527243
gene symbol: CTSB
hgvsc: ENST00000527243.1:c.281C>T
hgvsp: ENSP00000434725.1:p.Pro94Leu
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000436456
ensembl transcript: ENST00000531551
gene symbol: CTSB
hgvsc: ENST00000531551.1:c.281C>T
hgvsp: ENSP00000436456.1:p.Pro94Leu
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000415889
ensembl transcript: ENST00000434271
gene symbol: CTSB
hgvsc: ENST00000434271.1:c.281C>T
hgvsp: ENSP00000415889.1:p.Pro94Leu
variant of: http://identifiers.org/hgnc/2527

GenotypeDepth
all individuals: 2076
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 14833
bin: 2.75e1
variant carriers: 31

GenotypeDepth
all individuals: 376
bin: 4.75e1
variant carriers: 16

GenotypeDepth
all individuals: 3310
bin: 3.25e1
variant carriers: 47

GenotypeDepth
all individuals: 22
bin: 8.75e1
variant carriers: 2

GenotypeDepth
all individuals: 110
bin: 6.75e1
variant carriers: 5

GenotypeDepth
all individuals: 84
bin: 9.75e1
variant carriers: 18

GenotypeDepth
all individuals: 269
bin: 5.25e1
variant carriers: 12

GenotypeDepth
all individuals: 47
bin: 7.75e1
variant carriers: 3

GenotypeDepth
all individuals: 156
bin: 6.25e1
variant carriers: 7

GenotypeDepth
all individuals: 195
bin: 5.75e1
variant carriers: 12

GenotypeDepth
all individuals: 711
bin: 1.75e1
variant carriers: 12

GenotypeDepth
all individuals: 1225
bin: 1.25e1
variant carriers: 4

GenotypeDepth
all individuals: 35663
bin: 2.25e1
variant carriers: 20

GenotypeDepth
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 921
bin: 3.75e1
variant carriers: 26

GenotypeDepth
all individuals: 558
bin: 4.25e1
variant carriers: 20

GenotypeDepth
all individuals: 26
bin: 9.25e1
variant carriers: 3

GenotypeDepth
all individuals: 33
bin: 8.25e1
variant carriers: 4

GenotypeDepth
all individuals: 78
bin: 7.25e1
variant carriers: 4

GenotypeQuality
all individuals: 602
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 378
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46647
bin: 6.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 282
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4030
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2640
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1994
bin: 9.75e1
variant carriers: 242

GenotypeQuality
all individuals: 194
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 220
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 414
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 929
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 971
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 9.233610341643582e-4
allele num: 6498
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.138952164009112e-3
allele num: 878
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.059704513256426e-4
allele num: 9882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 200
allele frequency: 3.096454559529339e-3
allele num: 64590
num of homozygotes: 0

Latino
type: Population
allele count: 12
allele frequency: 1.070854899161164e-3
allele num: 11206
num of homozygotes: 0

South Asian
type: Population
allele count: 22
allele frequency: 1.416977972433338e-3
allele num: 15526
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.629999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.25e1

DP
type: SiteQuality
SIO_000300: 1.469027e6

MQRankSum
type: SiteQuality
SIO_000300: 2.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.31e0

FS
type: SiteQuality
SIO_000300: 5.26e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000415889
ensembl transcript: ENST00000434271
gene symbol: CTSB
hgvsc: ENST00000434271.1:c.281C>G
hgvsp: ENSP00000415889.1:p.Pro94Arg
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000345672
ensembl transcript: ENST00000353047
gene symbol: CTSB
hgvsc: ENST00000353047.6:c.281C>G
hgvsp: ENSP00000345672.5:p.Pro94Arg
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000436122
ensembl transcript: ENST00000534149
gene symbol: CTSB
hgvsc: ENST00000534149.1:c.281C>G
hgvsp: ENSP00000436122.1:p.Pro94Arg
variant of: http://identifiers.org/hgnc/2527

GenotypeDepth
all individuals: 26
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 711
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14833
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 558
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 84
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 33
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2076
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3310
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 195
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1225
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 376
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35663
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 156
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 110
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 921
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 269
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4030
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 414
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2640
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 46647
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 929
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 971
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1994
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11206
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.44080896560608e-5
allele num: 15526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64590
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.91e-1

DP
type: SiteQuality
SIO_000300: 1.469027e6

MQ
type: SiteQuality
SIO_000300: 5.971e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

FS
type: SiteQuality
SIO_000300: 5.26e-1

QD
type: SiteQuality
SIO_000300: 1.25e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.629999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000435105
ensembl transcript: ENST00000530640
gene symbol: CTSB
hgvsc: ENST00000530640.2:c.276G>A
hgvsp: ENST00000530640.2:c.276G>A(p.%3D)
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000415889
ensembl transcript: ENST00000434271
gene symbol: CTSB
hgvsc: ENST00000434271.1:c.276G>A
hgvsp: ENST00000434271.1:c.276G>A(p.%3D)
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000436627
ensembl transcript: ENST00000526195
gene symbol: CTSB
hgvsc: ENST00000526195.1:c.276G>A
hgvsp: ENST00000526195.1:c.276G>A(p.%3D)
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000164733
ensembl transcript: ENST00000525076
gene symbol: CTSB
hgvsc: ENST00000525076.1:n.359G>A
variant of: http://identifiers.org/hgnc/2527

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

GenotypeDepth
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 647
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 184
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 35772
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3289
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15088
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2012
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1138
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 894
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 539
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 258
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 997
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1764
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 490
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4136
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2589
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 256
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 282
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47235
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 937
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.032140691328078e-4
allele num: 9894
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15560
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.907892392659897e-5
allele num: 11226
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64708
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.81e-1

MQ
type: SiteQuality
SIO_000300: 5.912e1

QD
type: SiteQuality
SIO_000300: 1.091e1

DP
type: SiteQuality
SIO_000300: 1.467559e6

FS
type: SiteQuality
SIO_000300: 6.789e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.134e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.38e-1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000434725
ensembl transcript: ENST00000527243
gene symbol: CTSB
hgvsc: ENST00000527243.1:c.273A>G
hgvsp: ENST00000527243.1:c.273A>G(p.%3D)
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000436122
ensembl transcript: ENST00000534149
gene symbol: CTSB
hgvsc: ENST00000534149.1:c.273A>G
hgvsp: ENST00000534149.1:c.273A>G(p.%3D)
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000435650
ensembl transcript: ENST00000505496
gene symbol: CTSB
hgvsc: ENST00000505496.2:c.273A>G
hgvsp: ENST00000505496.2:c.273A>G(p.%3D)
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000433995
ensembl transcript: ENST00000533572
gene symbol: CTSB
hgvsc: ENST00000533572.1:c.273A>G
hgvsp: ENST00000533572.1:c.273A>G(p.%3D)
variant of: http://identifiers.org/hgnc/2527

GenotypeDepth
all individuals: 15228
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 889
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35640
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 183
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 676
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 362
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3265
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2004
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1142
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 106
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 536
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4144
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46997
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 547
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 337
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 993
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1762
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2632
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15572
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.169043722235212e-4
allele num: 8554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9910
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64690
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11228
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e0

VQSLOD
type: SiteQuality
SIO_000300: 1.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.468054e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-1

QD
type: SiteQuality
SIO_000300: 1.18e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000436074
ensembl transcript: ENST00000524500
gene symbol: CTSB
hgvsc: ENST00000524500.1:c.272C>T
hgvsp: ENSP00000436074.1:p.Pro91Leu
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000436456
ensembl transcript: ENST00000531551
gene symbol: CTSB
hgvsc: ENST00000531551.1:c.272C>T
hgvsp: ENSP00000436456.1:p.Pro91Leu
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000164733
ensembl transcript: ENST00000525315
gene symbol: CTSB
hgvsc: ENST00000525315.1:n.280C>T
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000434725
ensembl transcript: ENST00000527243
gene symbol: CTSB
hgvsc: ENST00000527243.1:c.272C>T
hgvsp: ENSP00000434725.1:p.Pro91Leu
variant of: http://identifiers.org/hgnc/2527

GenotypeDepth
all individuals: 3306
bin: 3.25e1
variant carriers: 14

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

GenotypeDepth
all individuals: 25
bin: 9.25e1
variant carriers: 2

GenotypeDepth
all individuals: 1982
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1117
bin: 1.25e1
variant carriers: 5

GenotypeDepth
all individuals: 15247
bin: 2.75e1
variant carriers: 16

GenotypeDepth
all individuals: 184
bin: 5.75e1
variant carriers: 3

GenotypeDepth
all individuals: 661
bin: 1.75e1
variant carriers: 9

GenotypeDepth
all individuals: 260
bin: 5.25e1
variant carriers: 3

GenotypeDepth
all individuals: 83
bin: 9.75e1
variant carriers: 21

GenotypeDepth
all individuals: 48
bin: 7.75e1
variant carriers: 2

GenotypeDepth
all individuals: 367
bin: 4.75e1
variant carriers: 6

GenotypeDepth
all individuals: 901
bin: 3.75e1
variant carriers: 9

GenotypeDepth
all individuals: 549
bin: 4.25e1
variant carriers: 15

GenotypeDepth
all individuals: 155
bin: 6.25e1
variant carriers: 6

GenotypeDepth
all individuals: 105
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 35582
bin: 2.25e1
variant carriers: 9

GenotypeDepth
all individuals: 29
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 76
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 937
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47161
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1864
bin: 9.75e1
variant carriers: 124

GenotypeQuality
all individuals: 194
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 488
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 987
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 307
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2602
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 485
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4130
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 97
allele frequency: 9.776254787341261e-3
allele num: 9922
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.536570374923171e-4
allele num: 6508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 2.781383274615242e-4
allele num: 64716
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 8.011393982552964e-4
allele num: 11234
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.183e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

QD
type: SiteQuality
SIO_000300: 1.241e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.972e1

MQRankSum
type: SiteQuality
SIO_000300: 2.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e-1

FS
type: SiteQuality
SIO_000300: 5.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.15e0

DP
type: SiteQuality
SIO_000300: 1.472571e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000164733
ensembl transcript: ENST00000525315
gene symbol: CTSB
hgvsc: ENST00000525315.1:n.273C>T
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: true
consequence: stop_gained
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000345672
ensembl transcript: ENST00000353047
gene symbol: CTSB
hgvsc: ENST00000353047.6:c.265C>T
hgvsp: ENSP00000345672.5:p.Gln89Ter
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: stop_gained
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000436627
ensembl transcript: ENST00000526195
gene symbol: CTSB
hgvsc: ENST00000526195.1:c.265C>T
hgvsp: ENSP00000436627.1:p.Gln89Ter
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: stop_gained
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000435105
ensembl transcript: ENST00000530640
gene symbol: CTSB
hgvsc: ENST00000530640.2:c.265C>T
hgvsp: ENSP00000435105.1:p.Gln89Ter
variant of: http://identifiers.org/hgnc/2527

GenotypeDepth
all individuals: 75
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 618
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 895
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15451
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1134
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2032
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 535
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3307
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 365
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 35406
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 936
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2735
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 275
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 203
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 414
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 998
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4163
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47318
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1753
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.547221190741428e-5
allele num: 64632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11228
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9904
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15558
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.026e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.489e0

MQRankSum
type: SiteQuality
SIO_000300: -2.75e-1

DP
type: SiteQuality
SIO_000300: 1.469854e6

QD
type: SiteQuality
SIO_000300: 1.161e1

MQ
type: SiteQuality
SIO_000300: 5.906e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.77e-1

FS
type: SiteQuality
SIO_000300: 8.26e-1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000342070
ensembl transcript: ENST00000345125
gene symbol: CTSB
hgvsc: ENST00000345125.3:c.252C>T
hgvsp: ENST00000345125.3:c.252C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000164733
ensembl transcript: ENST00000525076
gene symbol: CTSB
hgvsc: ENST00000525076.1:n.335C>T
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000164733
ensembl transcript: ENST00000525315
gene symbol: CTSB
hgvsc: ENST00000525315.1:n.260C>T
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000436456
ensembl transcript: ENST00000531551
gene symbol: CTSB
hgvsc: ENST00000531551.1:c.252C>T
hgvsp: ENST00000531551.1:c.252C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2527

GenotypeDepth
all individuals: 558
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 536
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2458
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1538
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 365
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34294
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 106
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3340
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 15744
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 900
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 150
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 195
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 945
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 195
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 212
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3596
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1750
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 403
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4104
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 899
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46532
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.018122581958868e-4
allele num: 9822
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11176
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5600624024961e-5
allele num: 64100
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15416
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.462214e6

QD
type: SiteQuality
SIO_000300: 1.293e1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQRankSum
type: SiteQuality
SIO_000300: -2.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.91e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000435886
ensembl transcript: ENST00000531502
gene symbol: CTSB
hgvsc: ENST00000531502.1:c.248G>A
hgvsp: ENSP00000435886.1:p.Ser83Asn
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000409917
ensembl transcript: ENST00000453527
gene symbol: CTSB
hgvsc: ENST00000453527.2:c.248G>A
hgvsp: ENSP00000409917.2:p.Ser83Asn
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000436159
ensembl transcript: ENST00000534636
gene symbol: CTSB
hgvsc: ENST00000534636.1:c.248G>A
hgvsp: ENSP00000436159.1:p.Ser83Asn
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000164733
ensembl transcript: ENST00000525076
gene symbol: CTSB
hgvsc: ENST00000525076.1:n.331G>A
variant of: http://identifiers.org/hgnc/2527

GenotypeDepth
all individuals: 75
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33708
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 576
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1851
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2664
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 901
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3310
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 533
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15819
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 366
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 279
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1747
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 46292
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4061
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 945
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4100
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11144
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.02291325695581e-4
allele num: 9776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63816
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15396
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.363e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.275e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.608e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 1.456014e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000164733
ensembl transcript: ENST00000532370
gene symbol: CTSB
hgvsc: ENST00000532370.1:n.603C>T
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000164733
ensembl transcript: ENST00000525076
gene symbol: CTSB
hgvsc: ENST00000525076.1:n.321C>T
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000415889
ensembl transcript: ENST00000434271
gene symbol: CTSB
hgvsc: ENST00000434271.1:c.238C>T
hgvsp: ENST00000434271.1:c.238C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000436122
ensembl transcript: ENST00000534149
gene symbol: CTSB
hgvsc: ENST00000534149.1:c.238C>T
hgvsp: ENST00000534149.1:c.238C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2527

GenotypeDepth
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3217
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15626
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3851
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 75
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 535
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 760
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 903
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3281
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31174
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 366
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 837
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6360
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 867
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43915
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1747
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 450
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3767
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62178
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15190
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10952
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9576
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.378686964795433e-4
allele num: 8408
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.253e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

MQRankSum
type: SiteQuality
SIO_000300: 2.1e0

VQSLOD
type: SiteQuality
SIO_000300: -1.082e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.423586e6

QD
type: SiteQuality
SIO_000300: 9.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.13e-1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000435074
ensembl transcript: ENST00000530296
gene symbol: CTSB
hgvsc: ENST00000530296.1:c.234G>A
hgvsp: ENST00000530296.1:c.234G>A(p.%3D)
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000433215
ensembl transcript: ENST00000531089
gene symbol: CTSB
hgvsc: ENST00000531089.1:c.234G>A
hgvsp: ENST00000531089.1:c.234G>A(p.%3D)
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000436159
ensembl transcript: ENST00000534636
gene symbol: CTSB
hgvsc: ENST00000534636.1:c.234G>A
hgvsp: ENST00000534636.1:c.234G>A(p.%3D)
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000164733
ensembl transcript: ENST00000525076
gene symbol: CTSB
hgvsc: ENST00000525076.1:n.317G>A
variant of: http://identifiers.org/hgnc/2527

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4719
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4283
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29425
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3229
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 365
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 533
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 905
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15270
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 960
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 674
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8076
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 186
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 839
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41722
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3685
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1746
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9442
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6300
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.203369434416366e-4
allele num: 8310
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15024
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61004
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.018e0

DP
type: SiteQuality
SIO_000300: 1.396668e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.35e-1

QD
type: SiteQuality
SIO_000300: 1.163e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.751e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.052e0

FS
type: SiteQuality
SIO_000300: 0.0e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000164733
ensembl transcript: ENST00000525315
gene symbol: CTSB
hgvsc: ENST00000525315.1:n.240C>T
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000436159
ensembl transcript: ENST00000534636
gene symbol: CTSB
hgvsc: ENST00000534636.1:c.232C>T
hgvsp: ENST00000534636.1:c.232C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000436122
ensembl transcript: ENST00000534149
gene symbol: CTSB
hgvsc: ENST00000534149.1:c.232C>T
hgvsp: ENST00000534149.1:c.232C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000436456
ensembl transcript: ENST00000531551
gene symbol: CTSB
hgvsc: ENST00000531551.1:c.232C>T
hgvsp: ENST00000531551.1:c.232C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2527

GenotypeDepth
all individuals: 62
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 19
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5187
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4855
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15124
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28487
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 365
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1028
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3203
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 534
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 892
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9014
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3619
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40696
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1751
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 747
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10738
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60376
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8252
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.270766602605168e-4
allele num: 9366
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14950
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.561e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.322e1

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

FS
type: SiteQuality
SIO_000300: 1.615e0

DP
type: SiteQuality
SIO_000300: 1.382433e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000164733
ensembl transcript: ENST00000525315
gene symbol: CTSB
hgvsc: ENST00000525315.1:n.240C>G
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000436456
ensembl transcript: ENST00000531551
gene symbol: CTSB
hgvsc: ENST00000531551.1:c.232C>G
hgvsp: ENSP00000436456.1:p.Leu78Val
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000434725
ensembl transcript: ENST00000527243
gene symbol: CTSB
hgvsc: ENST00000527243.1:c.232C>G
hgvsp: ENSP00000434725.1:p.Leu78Val
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000433215
ensembl transcript: ENST00000531089
gene symbol: CTSB
hgvsc: ENST00000531089.1:c.232C>G
hgvsp: ENSP00000433215.1:p.Leu78Val
variant of: http://identifiers.org/hgnc/2527

GenotypeDepth
all individuals: 80
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 28487
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3203
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 534
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 892
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5187
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4855
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1028
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15124
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 106
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 365
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 388
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40696
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1751
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 9014
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3619
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.179245283018868e-3
allele num: 848
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.635482307319437e-4
allele num: 8252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9366
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14950
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10738
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6252
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.382433e6

FS
type: SiteQuality
SIO_000300: 1.615e0

MQRankSum
type: SiteQuality
SIO_000300: -1.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.561e0

QD
type: SiteQuality
SIO_000300: 1.322e1

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000415889
ensembl transcript: ENST00000434271
gene symbol: CTSB
hgvsc: ENST00000434271.1:c.231C>T
hgvsp: ENST00000434271.1:c.231C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000342070
ensembl transcript: ENST00000345125
gene symbol: CTSB
hgvsc: ENST00000345125.3:c.231C>T
hgvsp: ENST00000345125.3:c.231C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000164733
ensembl transcript: ENST00000525076
gene symbol: CTSB
hgvsc: ENST00000525076.1:n.314C>T
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000435650
ensembl transcript: ENST00000505496
gene symbol: CTSB
hgvsc: ENST00000505496.2:c.231C>T
hgvsp: ENST00000505496.2:c.231C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2527

GenotypeDepth
all individuals: 5160
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 533
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 86
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 893
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28048
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15039
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3166
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5401
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 364
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1066
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9472
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 782
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3603
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40144
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1744
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 50
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6230
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14920
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.665001665001665e-5
allele num: 60060
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8236
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9332
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10714
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.86e-1

DP
type: SiteQuality
SIO_000300: 1.37507e6

QD
type: SiteQuality
SIO_000300: 8.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 1.83e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.36e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000164733
ensembl transcript: ENST00000532370
gene symbol: CTSB
hgvsc: ENST00000532370.1:n.595A>C
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000342070
ensembl transcript: ENST00000345125
gene symbol: CTSB
hgvsc: ENST00000345125.3:c.230A>C
hgvsp: ENSP00000342070.3:p.Asp77Ala
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000415889
ensembl transcript: ENST00000434271
gene symbol: CTSB
hgvsc: ENST00000434271.1:c.230A>C
hgvsp: ENSP00000415889.1:p.Asp77Ala
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000164733
ensembl transcript: ENST00000525076
gene symbol: CTSB
hgvsc: ENST00000525076.1:n.313A>C
variant of: http://identifiers.org/hgnc/2527

GenotypeDepth
all individuals: 62
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27591
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1098
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 531
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5485
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 364
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3154
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5618
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14928
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 896
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39469
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1744
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 777
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9933
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3588
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 816
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 835
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.725854183481302e-5
allele num: 14868
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10666
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9306
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6204
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59762
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.91e0

MQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

QD
type: SiteQuality
SIO_000300: 1.48e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 1.367799e6

MQ
type: SiteQuality
SIO_000300: 5.871e1

VQSLOD
type: SiteQuality
SIO_000300: -2.653e0

FS
type: SiteQuality
SIO_000300: 3.214e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.62e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000164733
ensembl transcript: ENST00000525315
gene symbol: CTSB
hgvsc: ENST00000525315.1:n.234G>A
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000435650
ensembl transcript: ENST00000505496
gene symbol: CTSB
hgvsc: ENST00000505496.2:c.226G>A
hgvsp: ENSP00000435650.1:p.Glu76Lys
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000433215
ensembl transcript: ENST00000531089
gene symbol: CTSB
hgvsc: ENST00000531089.1:c.226G>A
hgvsp: ENSP00000433215.1:p.Glu76Lys
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000432244
ensembl transcript: ENST00000533455
gene symbol: CTSB
hgvsc: ENST00000533455.1:c.226G>A
hgvsp: ENSP00000432244.1:p.Glu76Lys
variant of: http://identifiers.org/hgnc/2527

GenotypeDepth
all individuals: 136
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6442
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 539
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 894
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25813
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6656
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1214
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14520
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 367
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3175
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 62
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 985
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 772
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11711
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1745
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 184
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 853
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3417
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 750
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37498
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6106
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.362397820163488e-4
allele num: 14680
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58520
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9178
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8106
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

DP
type: SiteQuality
SIO_000300: 1.341262e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.58e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

QD
type: SiteQuality
SIO_000300: 1.081e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000436627
ensembl transcript: ENST00000526195
gene symbol: CTSB
hgvsc: ENST00000526195.1:c.225C>T
hgvsp: ENST00000526195.1:c.225C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000411254
ensembl transcript: ENST00000415599
gene symbol: CTSB
hgvsc: ENST00000415599.2:c.225C>T
hgvsp: ENST00000415599.2:c.225C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000164733
ensembl transcript: ENST00000532370
gene symbol: CTSB
hgvsc: ENST00000532370.1:n.590C>T
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000434725
ensembl transcript: ENST00000527243
gene symbol: CTSB
hgvsc: ENST00000527243.1:c.225C>T
hgvsp: ENST00000527243.1:c.225C>T(p.%3D)
variant of: http://identifiers.org/hgnc/2527

GenotypeDepth
all individuals: 6765
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 25230
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 149
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1235
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 535
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3143
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 7080
bin: 1.25e1
variant carriers: 4

GenotypeDepth
all individuals: 262
bin: 5.25e1
variant carriers: 2

GenotypeDepth
all individuals: 62
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14345
bin: 2.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 106
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 909
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 367
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 145
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 883
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1020
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12390
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1752
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 36750
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3381
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.832467887400929e-5
allele num: 14636
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.379242391066346e-4
allele num: 9134
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.721466689619556e-5
allele num: 58090
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10482
num of homozygotes: 0

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

East Asian
type: Population
allele count: 5
allele frequency: 6.200396825396825e-4
allele num: 8064
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.68e-1

QD
type: SiteQuality
SIO_000300: 1.249e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 1.331134e6

FS
type: SiteQuality
SIO_000300: 4.369e0

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000436456
ensembl transcript: ENST00000531551
gene symbol: CTSB
hgvsc: ENST00000531551.1:c.223A>G
hgvsp: ENSP00000436456.1:p.Thr75Ala
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000164733
ensembl transcript: ENST00000532370
gene symbol: CTSB
hgvsc: ENST00000532370.1:n.588A>G
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000436122
ensembl transcript: ENST00000534149
gene symbol: CTSB
hgvsc: ENST00000534149.1:c.223A>G
hgvsp: ENSP00000436122.1:p.Thr75Ala
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000433215
ensembl transcript: ENST00000531089
gene symbol: CTSB
hgvsc: ENST00000531089.1:c.223A>G
hgvsp: ENSP00000433215.1:p.Thr75Ala
variant of: http://identifiers.org/hgnc/2527

GenotypeDepth
all individuals: 76
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 7595
bin: 7.5e0
variant carriers: 2

GenotypeDepth
all individuals: 1350
bin: 1.75e1
variant carriers: 35

GenotypeDepth
all individuals: 25
bin: 9.25e1
variant carriers: 2

GenotypeDepth
all individuals: 64
bin: 9.75e1
variant carriers: 5

GenotypeDepth
all individuals: 371
bin: 4.75e1
variant carriers: 9

GenotypeDepth
all individuals: 913
bin: 3.75e1
variant carriers: 27

GenotypeDepth
all individuals: 168
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 23484
bin: 2.25e1
variant carriers: 39

GenotypeDepth
all individuals: 8308
bin: 1.25e1
variant carriers: 6

GenotypeDepth
all individuals: 3103
bin: 3.25e1
variant carriers: 46

GenotypeDepth
all individuals: 150
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 13883
bin: 2.75e1
variant carriers: 54

GenotypeDepth
all individuals: 266
bin: 5.25e1
variant carriers: 9

GenotypeDepth
all individuals: 48
bin: 7.75e1
variant carriers: 2

GenotypeDepth
all individuals: 186
bin: 5.75e1
variant carriers: 6

GenotypeDepth
all individuals: 561
bin: 4.25e1
variant carriers: 29

GenotypeDepth
all individuals: 29
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 107
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 995
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 14227
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 194
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1184
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34401
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1991
bin: 9.75e1
variant carriers: 265

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 617
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 738
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3250
bin: 6.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 2.275990055674218e-4
allele num: 57118
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9018
num of homozygotes: 0

Latino
type: Population
allele count: 11
allele frequency: 1.063418406805878e-3
allele num: 10344
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5996
num of homozygotes: 0

South Asian
type: Population
allele count: 18
allele frequency: 1.240011022320198e-3
allele num: 14516
num of homozygotes: 0

East Asian
type: Population
allele count: 233
allele frequency: 2.944893832153691e-2
allele num: 7912
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.69e-1

DP
type: SiteQuality
SIO_000300: 1.304976e6

VQSLOD
type: SiteQuality
SIO_000300: 6.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

QD
type: SiteQuality
SIO_000300: 1.428e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000411254
ensembl transcript: ENST00000415599
gene symbol: CTSB
hgvsc: ENST00000415599.2:c.220T>C
hgvsp: ENSP00000411254.2:p.Phe74Leu
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000415889
ensembl transcript: ENST00000434271
gene symbol: CTSB
hgvsc: ENST00000434271.1:c.220T>C
hgvsp: ENSP00000415889.1:p.Phe74Leu
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000164733
ensembl transcript: ENST00000532370
gene symbol: CTSB
hgvsc: ENST00000532370.1:n.585T>C
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000436074
ensembl transcript: ENST00000524500
gene symbol: CTSB
hgvsc: ENST00000524500.1:c.220T>C
hgvsp: ENSP00000436074.1:p.Phe74Leu
variant of: http://identifiers.org/hgnc/2527

GenotypeDepth
all individuals: 1412
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9426
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8321
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22065
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13486
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 217
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 257
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 531
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 883
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3057
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1314
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15829
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1127
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3247
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1732
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 33239
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.294665976178146e-4
allele num: 7724
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5902
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8924
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56232
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14382
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.73e-1

FS
type: SiteQuality
SIO_000300: 7.273e0

MQ
type: SiteQuality
SIO_000300: 5.861e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.905e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.65e-1

QD
type: SiteQuality
SIO_000300: 7.57e0

DP
type: SiteQuality
SIO_000300: 1.276837e6

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000435650
ensembl transcript: ENST00000505496
gene symbol: CTSB
hgvsc: ENST00000505496.2:c.218T>G
hgvsp: ENSP00000435650.1:p.Met73Arg
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000436456
ensembl transcript: ENST00000531551
gene symbol: CTSB
hgvsc: ENST00000531551.1:c.218T>G
hgvsp: ENSP00000436456.1:p.Met73Arg
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000436074
ensembl transcript: ENST00000524500
gene symbol: CTSB
hgvsc: ENST00000524500.1:c.218T>G
hgvsp: ENSP00000436074.1:p.Met73Arg
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000436122
ensembl transcript: ENST00000534149
gene symbol: CTSB
hgvsc: ENST00000534149.1:c.218T>G
hgvsp: ENSP00000436122.1:p.Met73Arg
variant of: http://identifiers.org/hgnc/2527

GenotypeDepth
all individuals: 3047
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12152
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 902
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 257
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 533
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10294
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1909
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 389
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12588
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 364
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17582
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1775
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1575
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1524
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2382
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26356
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1738
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 648
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20131
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13990
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7386
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5716
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53570
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.033912324234905e-4
allele num: 9672
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.3e-1

FS
type: SiteQuality
SIO_000300: 5.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.7e-2

QD
type: SiteQuality
SIO_000300: 1.127e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-1

MQ
type: SiteQuality
SIO_000300: 5.91e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

DP
type: SiteQuality
SIO_000300: 1.204506e6

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000436122
ensembl transcript: ENST00000534149
gene symbol: CTSB
hgvsc: ENST00000534149.1:c.218T>C
hgvsp: ENSP00000436122.1:p.Met73Thr
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000411254
ensembl transcript: ENST00000415599
gene symbol: CTSB
hgvsc: ENST00000415599.2:c.218T>C
hgvsp: ENSP00000411254.2:p.Met73Thr
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000433215
ensembl transcript: ENST00000531089
gene symbol: CTSB
hgvsc: ENST00000531089.1:c.218T>C
hgvsp: ENSP00000433215.1:p.Met73Thr
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000164733
ensembl transcript: ENST00000525315
gene symbol: CTSB
hgvsc: ENST00000525315.1:n.226T>C
variant of: http://identifiers.org/hgnc/2527

GenotypeDepth
all individuals: 151
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1909
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 902
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 533
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 389
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12588
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12152
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10294
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3047
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 364
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17582
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 60
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 257
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1775
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1524
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1738
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 406
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1575
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20131
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 648
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26356
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2382
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.324500232450023e-4
allele num: 8604
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.866716445771887e-5
allele num: 53570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13990
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.06782464846981e-4
allele num: 9672
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5716
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.91e1

VQSLOD
type: SiteQuality
SIO_000300: 4.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

FS
type: SiteQuality
SIO_000300: 5.96e-1

DP
type: SiteQuality
SIO_000300: 1.204506e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e0

QD
type: SiteQuality
SIO_000300: 1.127e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000435886
ensembl transcript: ENST00000531502
gene symbol: CTSB
hgvsc: ENST00000531502.1:c.218T>A
hgvsp: ENSP00000435886.1:p.Met73Lys
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000345672
ensembl transcript: ENST00000353047
gene symbol: CTSB
hgvsc: ENST00000353047.6:c.218T>A
hgvsp: ENSP00000345672.5:p.Met73Lys
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000164733
ensembl transcript: ENST00000525315
gene symbol: CTSB
hgvsc: ENST00000525315.1:n.226T>A
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000433215
ensembl transcript: ENST00000531089
gene symbol: CTSB
hgvsc: ENST00000531089.1:c.218T>A
hgvsp: ENSP00000433215.1:p.Met73Lys
variant of: http://identifiers.org/hgnc/2527

GenotypeDepth
all individuals: 10294
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 257
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1909
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12588
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 902
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 389
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12152
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3047
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 364
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17582
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 18
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 533
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1775
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1524
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20131
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26356
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2382
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 648
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1738
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 276
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1575
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9672
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.429592566118656e-4
allele num: 13990
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5716
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

DP
type: SiteQuality
SIO_000300: 1.204506e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-1

FS
type: SiteQuality
SIO_000300: 5.96e-1

MQ
type: SiteQuality
SIO_000300: 5.91e1

QD
type: SiteQuality
SIO_000300: 1.127e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e0

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000436074
ensembl transcript: ENST00000524500
gene symbol: CTSB
hgvsc: ENST00000524500.1:c.213-4C>T
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000436456
ensembl transcript: ENST00000531551
gene symbol: CTSB
hgvsc: ENST00000531551.1:c.213-4C>T
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000435074
ensembl transcript: ENST00000530296
gene symbol: CTSB
hgvsc: ENST00000530296.1:c.213-4C>T
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000435650
ensembl transcript: ENST00000505496
gene symbol: CTSB
hgvsc: ENST00000505496.2:c.213-4C>T
variant of: http://identifiers.org/hgnc/2527

GenotypeDepth
all individuals: 13906
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 531
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 866
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16139
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 672
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12393
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2183
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2671
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 257
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10035
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24822
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1970
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 816
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 772
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1730
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 22264
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2325
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2076
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50730
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9064
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8276
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.435132032146958e-4
allele num: 6968
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5464
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.488e0

MQRankSum
type: SiteQuality
SIO_000300: 3.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

QD
type: SiteQuality
SIO_000300: 3.037e1

DP
type: SiteQuality
SIO_000300: 1.116726e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000415889
ensembl transcript: ENST00000434271
gene symbol: CTSB
hgvsc: ENST00000434271.1:c.213-5T>C
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000433215
ensembl transcript: ENST00000531089
gene symbol: CTSB
hgvsc: ENST00000531089.1:c.213-5T>C
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000436074
ensembl transcript: ENST00000524500
gene symbol: CTSB
hgvsc: ENST00000524500.1:c.213-5T>C
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000164733
ensembl transcript: ENST00000525315
gene symbol: CTSB
hgvsc: ENST00000525315.1:n.221-5T>C
variant of: http://identifiers.org/hgnc/2527

GenotypeDepth
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 868
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 674
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2638
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 532
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 18
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16153
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12456
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13911
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2137
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10026
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 257
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 152
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1955
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1732
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 270
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2316
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 771
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22662
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24971
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2081
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6966
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13568
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.835589941972921e-4
allele num: 8272
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9064
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50742
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5466
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.373e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.83e-1

DP
type: SiteQuality
SIO_000300: 1.115645e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.79e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000436159
ensembl transcript: ENST00000534636
gene symbol: CTSB
hgvsc: ENST00000534636.1:c.213-11C>A
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000409917
ensembl transcript: ENST00000453527
gene symbol: CTSB
hgvsc: ENST00000453527.2:c.213-11C>A
variant of: http://identifiers.org/hgnc/2527

GenotypeDepth
all individuals: 151
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1250
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19441
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2629
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 852
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 529
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 257
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14103
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10124
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2423
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 364
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8039
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28377
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1427
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2578
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1829
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1021
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3012
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1729
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 520
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16995
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.536570374923171e-4
allele num: 6508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7948
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5240
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13090
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48056
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.454e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

FS
type: SiteQuality
SIO_000300: 2.607e0

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

QD
type: SiteQuality
SIO_000300: 5.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.032351e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000409917
ensembl transcript: ENST00000453527
gene symbol: CTSB
hgvsc: ENST00000453527.2:c.213-14C>G
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000436159
ensembl transcript: ENST00000534636
gene symbol: CTSB
hgvsc: ENST00000534636.1:c.213-14C>G
variant of: http://identifiers.org/hgnc/2527

GenotypeDepth
all individuals: 8493
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 841
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14752
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2900
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1705
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 20799
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 180
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2288
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 257
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 527
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7081
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 364
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3334
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1730
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 130
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1936
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14358
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1760
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29406
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2971
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1137
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5108
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12886
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.288164665523156e-5
allele num: 46640
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6284
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

QD
type: SiteQuality
SIO_000300: 1.566e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

DP
type: SiteQuality
SIO_000300: 9.92741e5

FS
type: SiteQuality
SIO_000300: 1.17e1

VQSLOD
type: SiteQuality
SIO_000300: -3.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.388e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.69e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000436627
ensembl transcript: ENST00000526195
gene symbol: CTSB
hgvsc: ENST00000526195.1:c.213-18A>G
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000433215
ensembl transcript: ENST00000531089
gene symbol: CTSB
hgvsc: ENST00000531089.1:c.213-18A>G
variant of: http://identifiers.org/hgnc/2527

GenotypeDepth
all individuals: 365
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22062
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2094
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5973
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 106
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2501
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 257
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6604
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 526
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15562
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3212
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 838
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1736
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 758
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1626
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30208
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3440
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3734
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2799
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1316
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11500
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.941550190597205e-5
allele num: 12592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44732
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7896
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6022
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4958
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

QD
type: SiteQuality
SIO_000300: 1.371e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.89e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.55e-1

DP
type: SiteQuality
SIO_000300: 9.43391e5

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000436074
ensembl transcript: ENST00000524500
gene symbol: CTSB
hgvsc: ENST00000524500.1:c.213-18A>C
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000433215
ensembl transcript: ENST00000531089
gene symbol: CTSB
hgvsc: ENST00000531089.1:c.213-18A>C
variant of: http://identifiers.org/hgnc/2527

GenotypeDepth
all individuals: 526
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6604
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 15562
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2094
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 180
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 838
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2501
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22062
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3212
bin: 1.75e1
variant carriers: 4

GenotypeDepth
all individuals: 18
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 257
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 106
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 365
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5973
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2799
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1316
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11500
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1626
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3734
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 30208
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3440
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1736
bin: 9.75e1
variant carriers: 8

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7896
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.941550190597205e-5
allele num: 12592
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4958
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6022
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.788428865241885e-4
allele num: 44732
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.89e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.43391e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.95e-1

QD
type: SiteQuality
SIO_000300: 1.371e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000436627
ensembl transcript: ENST00000526195
gene symbol: CTSB
hgvsc: ENST00000526195.1:c.213-27T>C
variant of: http://identifiers.org/hgnc/2527

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000164733
ensembl protein: ENSP00000436159
ensembl transcript: ENST00000534636
gene symbol: CTSB
hgvsc: ENST00000534636.1:c.213-27T>C
variant of: http://identifiers.org/hgnc/2527

GenotypeDepth
all individuals: 17498
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 21896
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1624
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 364
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 527
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4751
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3964
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4153
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4107
bin: 2.25e1
variant carriers: 3

GenotypeDepth
all individuals: 76
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 256
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 805
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6924
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1733
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 28286
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1657
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1819
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1322
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 387
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5392
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1733
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 4266
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4362
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.68662506324844e-4
allele num: 11858
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.414427157001414e-4
allele num: 7070
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4594
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.542459066409031e-5
allele num: 39332
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.900000000000001e-3

FS
type: SiteQuality
SIO_000300: 3.023e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.144e1

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e-1

DP
type: SiteQuality
SIO_000300: 8.50752e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.87e-1