12-75723678-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75723678
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75723678
    reference: chr 12
allele count: 1
allele frequency: 4.641663572224285e-5
allele num: 21544
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-4610C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-8322C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000386977
  ensembl transcript: ENST00000409799
  gene symbol: CAPS2
  hgvsc: ENST00000409799.1:c.-40C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-3371C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-8322C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000493070
  gene symbol: CAPS2
  hgvsc: ENST00000493070.1:n.159C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000386959
  ensembl transcript: ENST00000409445
  gene symbol: CAPS2
  hgvsc: ENST00000409445.3:c.-39C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-8322C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-8322C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-6676C>T
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD

12-75723685-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75723685
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75723685
    reference: chr 12
allele count: 1
allele frequency: 4.644681839294008e-5
allele num: 21530
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-8329T>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-6683T>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-3378T>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-4617T>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000493070
  gene symbol: CAPS2
  hgvsc: ENST00000493070.1:n.152T>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-8329T>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000386977
  ensembl transcript: ENST00000409799
  gene symbol: CAPS2
  hgvsc: ENST00000409799.1:c.-47T>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000386959
  ensembl transcript: ENST00000409445
  gene symbol: CAPS2
  hgvsc: ENST00000409445.3:c.-46T>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-8329T>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-8329T>A
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2994
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD

12-75723686-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75723686
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75723686
    reference: chr 12
allele count: 9
allele frequency: 4.181767493727349e-4
allele num: 21522
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000386977
  ensembl transcript: ENST00000409799
  gene symbol: CAPS2
  hgvsc: ENST00000409799.1:c.-48C>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-8330C>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-4618C>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-8330C>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-3379C>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000493070
  gene symbol: CAPS2
  hgvsc: ENST00000493070.1:n.151C>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-8330C>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-6684C>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000386959
  ensembl transcript: ENST00000409445
  gene symbol: CAPS2
  hgvsc: ENST00000409445.3:c.-47C>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-8330C>A
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

12-75723689-ACAGT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75723689
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75723685
    reference: chr 12
allele count: 1
allele frequency: 4.646840148698885e-5
allele num: 21520
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-8337_34-8334delACTG
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000386959
  ensembl transcript: ENST00000409445
  gene symbol: CAPS2
  hgvsc: ENST00000409445.3:c.-54_-51delACTG
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000386977
  ensembl transcript: ENST00000409799
  gene symbol: CAPS2
  hgvsc: ENST00000409799.1:c.-55_-52delACTG
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000493070
  gene symbol: CAPS2
  hgvsc: ENST00000493070.1:n.144_147delACTG
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-8337_476-8334delACTG
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-3386_-130-3383delACTG
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-4625_*372-4622delACTG
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-8337_-645-8334delACTG
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-6691_-394-6688delACTG
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-8337_34-8334delACTG
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: ACAGT
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ

12-75728464-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728464
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728463
    reference: chr 12
allele count: 1
allele frequency: 8.821609414421567e-6
allele num: 113358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13109delC
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.-43delG
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11463delC
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8158delC
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13109delC
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.-43delG
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13109delC
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13109delC
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9397delC
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5292
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2802
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3236
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9143
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: TG
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

12-75728465-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728465
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728465
    reference: chr 12
allele count: 1
allele frequency: 8.823166104925091e-6
allele num: 113338
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.-44G>C
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13109C>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13109C>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13109C>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13109C>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9397C>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11463C>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.-44G>C
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8158C>G
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13812
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2793
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

12-75728469-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728469
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728469
    reference: chr 12
allele count: 19
allele frequency: 1.675100946872851e-4
allele num: 113426
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13113G>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13113G>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13113G>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11467G>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8162G>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.-40C>G
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.-40C>G
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13113G>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9401G>C
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5324
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13829
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2781
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 8.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

12-75728490-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728490
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728490
    reference: chr 12
allele count: 2
allele frequency: 1.736895126272276e-5
allele num: 115148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9422C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8183C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.-19G>A
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13134C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.-19G>A
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13134C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13134C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13134C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11488C>T
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3211
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

12-75728495-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728495
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728495
    reference: chr 12
allele count: 1
allele frequency: 8.624407072013798e-6
allele num: 115950
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11493G>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13139G>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13139G>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13139G>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.-14C>G
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8188G>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.-14C>G
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9427G>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13139G>C
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13832
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25528
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

12-75728496-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728496
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728496
    reference: chr 12
allele count: 1
allele frequency: 8.61341280642216e-6
allele num: 116098
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.-13T>G
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13140A>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13140A>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.-13T>G
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11494A>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13140A>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13140A>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8189A>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9428A>C
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25459
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3215
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

12-75728498-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728498
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728498
    reference: chr 12
allele count: 2
allele frequency: 1.719453901440902e-5
allele num: 116316
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.-11C>T
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.-11C>T
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9430G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13142G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11496G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13142G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8191G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13142G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13142G>A
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2466
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25681
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-75728498-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728498
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728498
    reference: chr 12
allele count: 1
allele frequency: 8.597269507204511e-6
allele num: 116316
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13142G>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13142G>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9430G>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.-11C>A
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13142G>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8191G>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11496G>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13142G>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.-11C>A
  variant of: http://identifiers.org/hgnc/28392
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9201
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8702
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum

12-75728501-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728501
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728501
    reference: chr 12
allele count: 1
allele frequency: 8.559152301556053e-6
allele num: 116834
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13145T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8194T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11499T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13145T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9433T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13145T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.-8A>G
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13145T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.-8A>G
  variant of: http://identifiers.org/hgnc/28392
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2296
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8701
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-75728503-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728503
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728503
    reference: chr 12
allele count: 3
allele frequency: 2.563839606194236e-5
allele num: 117012
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13147G>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13147G>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.-6C>A
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8196G>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13147G>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13147G>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9435G>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11501G>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.-6C>A
  variant of: http://identifiers.org/hgnc/28392
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13842
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3220
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9234
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff

12-75728509-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728509
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728509
    reference: chr 12
allele count: 1
allele frequency: 8.470556346140815e-6
allele num: 118056
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13153T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.1A>G
  hgvsp: ENSP00000367967.4:p.Met1?
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13153T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.1A>G
  hgvsp: ENSP00000310770.2:p.Met1?
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13153T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9441T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13153T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11507T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8202T>C
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1725
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

12-75728510-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728510
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728510
    reference: chr 12
allele count: 4
allele frequency: 3.384495625539404e-5
allele num: 118186
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9442A>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13154A>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13154A>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.2T>G
  hgvsp: ENSP00000367967.4:p.Met1?
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13154A>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8203A>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11508A>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13154A>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.2T>G
  hgvsp: ENSP00000310770.2:p.Met1?
  variant of: http://identifiers.org/hgnc/28392
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7651
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22168
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/12-75728519-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728519
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728519
    reference: chr 12
allele count: 1
allele frequency: 8.356592515835743e-6
allele num: 119666
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.11A>C
  hgvsp: ENSP00000367967.4:p.Lys4Thr
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8212T>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13163T>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13163T>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9451T>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.11A>C
  hgvsp: ENSP00000310770.2:p.Lys4Thr
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13163T>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13163T>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11517T>G
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28177
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys4Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

12-75728522-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728522
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728522
    reference: chr 12
allele count: 1
allele frequency: 8.331666999933347e-6
allele num: 120024
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11520T>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8215T>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.14A>T
  hgvsp: ENSP00000310770.2:p.Asn5Ile
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13166T>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.14A>T
  hgvsp: ENSP00000367967.4:p.Asn5Ile
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9454T>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13166T>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13166T>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13166T>A
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn5Ile
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-75728523-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728523
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728523
    reference: chr 12
allele count: 1
allele frequency: 8.325978718798394e-6
allele num: 120106
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.15T>C
  hgvsp: ENST00000378695.4:c.15T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13167A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8216A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9455A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.15T>C
  hgvsp: ENST00000312442.2:c.15T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11521A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13167A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13167A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13167A>G
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4137
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn5Asn
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

12-75728526-ATTCAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728526
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728521
    reference: chr 12
allele count: 22
allele frequency: 1.827758669391689e-4
allele num: 120366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.21_25delCAGTT
  hgvsp: ENSP00000310770.2:p.Phe7LeufsTer22
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.21_25delCAGTT
  hgvsp: ENSP00000367967.4:p.Phe7LeufsTer22
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9463_*372-9459delCTGAA
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8224_-130-8220delCTGAA
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9173
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2534
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3249
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Phe7LeufsTer22
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
reference allele: ATTCAG
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

12-75728532-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728532
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728532
    reference: chr 12
allele count: 17
allele frequency: 1.408520721825443e-4
allele num: 120694
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9464A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13176A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13176A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13176A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.24T>C
  hgvsp: ENST00000312442.2:c.24T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8225A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13176A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.24T>C
  hgvsp: ENST00000378695.4:c.24T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11530A>G
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 13915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4134
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser8Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

12-75728539-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728539
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728539
    reference: chr 12
allele count: 5
allele frequency: 4.130251614928381e-5
allele num: 121058
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13183A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13183A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11537A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13183A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.31T>C
  hgvsp: ENSP00000310770.2:p.Trp11Arg
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13183A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8232A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.31T>C
  hgvsp: ENSP00000367967.4:p.Trp11Arg
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9471A>G
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13940
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Trp11Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
reference allele: T
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

12-75728550-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728550
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728549
    reference: chr 12
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13195delG
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8244delG
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13195delG
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11549delG
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.43delC
  hgvsp: ENSP00000310770.2:p.Leu15CysfsTer4
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.43delC
  hgvsp: ENSP00000367967.4:p.Leu15CysfsTer4
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13195delG
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13195delG
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9483delG
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9569
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1576
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9474
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3259
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu15CysfsTer4
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: TC
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

12-75728551-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728551
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728551
    reference: chr 12
allele count: 5
allele frequency: 4.122147473948028e-5
allele num: 121296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13195G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9483G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.43C>T
  hgvsp: ENST00000378695.4:c.43C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13195G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13195G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13195G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.43C>T
  hgvsp: ENST00000312442.2:c.43C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11549G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8244G>A
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22805
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu15Leu
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

12-75728551-CTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728551
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728549
    reference: chr 12
allele count: 36
allele frequency: 2.96794618124258e-4
allele num: 121296
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.47_48delGT
  hgvsp: ENSP00000367967.4:p.Cys16PhefsTer14
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.47_48delGT
  hgvsp: ENSP00000310770.2:p.Cys16PhefsTer14
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13197_34-13196delCA
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11551_-394-11550delCA
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8246_-130-8245delCA
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13197_476-13196delCA
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9485_*372-9484delCA
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13197_-645-13196delCA
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13197_34-13196delCA
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22805
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5289
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9557
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9467
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Cys16PhefsTer14
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: CTG
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

12-75728552-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728552
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728551
    reference: chr 12
allele count: 1
allele frequency: 8.248647221855616e-6
allele num: 121232
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.45delG
  hgvsp: ENSP00000367967.4:p.Cys16ValfsTer3
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13197delC
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9485delC
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8246delC
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13197delC
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13197delC
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.45delG
  hgvsp: ENSP00000310770.2:p.Cys16ValfsTer3
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11551delC
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13197delC
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22808
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5285
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13963
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3260
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9468
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Cys16ValfsTer3
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: TG
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

12-75728555-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728555
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728555
    reference: chr 12
allele count: 39
allele frequency: 3.214956969037492e-4
allele num: 121308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9487C>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8248C>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.47G>T
  hgvsp: ENSP00000367967.4:p.Cys16Phe
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11553C>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.47G>T
  hgvsp: ENSP00000310770.2:p.Cys16Phe
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13199C>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13199C>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13199C>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13199C>A
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 5283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13970
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 9.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Cys16Phe
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

12-75728557-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728557
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728557
    reference: chr 12
allele count: 2
allele frequency: 1.64836976230508e-5
allele num: 121332
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11555A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8250A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13201A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.49T>C
  hgvsp: ENST00000312442.2:c.49T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13201A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13201A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13201A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.49T>C
  hgvsp: ENST00000378695.4:c.49T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9489A>G
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu17Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

12-75728558-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728558
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728558
    reference: chr 12
allele count: 3
allele frequency: 2.472595400972554e-5
allele num: 121330
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13202A>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9490A>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13202A>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.50T>G
  hgvsp: ENSP00000367967.4:p.Leu17Trp
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13202A>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8251A>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.50T>G
  hgvsp: ENSP00000310770.2:p.Leu17Trp
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13202A>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11556A>C
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4144
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu17Trp
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD

12-75728560-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728560
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728560
    reference: chr 12
allele count: 1537
allele frequency: 1.327655310621242e-2
allele num: 115768
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13204C>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9492C>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8253C>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.52G>T
  hgvsp: ENSP00000310770.2:p.Val18Leu
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13204C>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13204C>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.52G>T
  hgvsp: ENSP00000367967.4:p.Val18Leu
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11558C>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13204C>A
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 22592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 9.75e1
  variant carriers: 1319
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 9410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 5.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 13695
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9382
  bin: 6.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 2650
  bin: 8.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 19
hgvs: p.Val18Leu
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-75728567-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728567
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728567
    reference: chr 12
allele count: 3
allele frequency: 2.471984179301253e-5
allele num: 121360
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13211G>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9499G>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13211G>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13211G>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.59C>G
  hgvsp: ENSP00000367967.4:p.Thr20Ser
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13211G>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.59C>G
  hgvsp: ENSP00000310770.2:p.Thr20Ser
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8260G>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11565G>C
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9937
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6583
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr20Ser
num of homozygotes: 1
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

12-75728585-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728585
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728585
    reference: chr 12
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13229G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.77C>T
  hgvsp: ENSP00000367967.4:p.Pro26Leu
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13229G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9517G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8278G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13229G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.77C>T
  hgvsp: ENSP00000310770.2:p.Pro26Leu
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13229G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11583G>A
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9569
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9939
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6580
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1697
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro26Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

12-75728589-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728589
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728589
    reference: chr 12
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8282G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13233G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13233G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13233G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.81C>T
  hgvsp: ENST00000312442.2:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.81C>T
  hgvsp: ENST00000378695.4:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9521G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13233G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11587G>A
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1697
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2924
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser27Ser
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: DP

12-75728591-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728591
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728591
    reference: chr 12
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.83T>C
  hgvsp: ENSP00000367967.4:p.Ile28Thr
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.83T>C
  hgvsp: ENSP00000310770.2:p.Ile28Thr
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11589A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13235A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8284A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13235A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9523A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13235A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13235A>G
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23531
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30536
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3368
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1697
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile28Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
reference allele: T
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/12-75728598-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728598
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728598
    reference: chr 12
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13242G>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.90C>A
  hgvsp: ENSP00000310770.2:p.Asp30Glu
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13242G>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13242G>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8291G>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.90C>A
  hgvsp: ENSP00000367967.4:p.Asp30Glu
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13242G>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9530G>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11596G>T
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4369
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp30Glu
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: C
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/12-75728599-CCA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728599
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728597
    reference: chr 12
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8294_-130-8293delTG
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13245_-645-13244delTG
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9533_*372-9532delTG
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13245_476-13244delTG
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13245_34-13244delTG
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.95_96delAC
  hgvsp: ENSP00000310770.2:p.His32LeufsTer30
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13245_34-13244delTG
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.95_96delAC
  hgvsp: ENSP00000367967.4:p.His32LeufsTer30
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11599_-394-11598delTG
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9938
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.His32LeufsTer30
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: CCA
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

12-75728612-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728612
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728612
    reference: chr 12
allele count: 22
allele frequency: 1.812429974296448e-4
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8305T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13256T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.104A>G
  hgvsp: ENSP00000310770.2:p.Asp35Gly
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13256T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13256T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13256T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9544T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.104A>G
  hgvsp: ENSP00000367967.4:p.Asp35Gly
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11610T>C
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5644
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 23532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9944
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3366
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp35Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

12-75728622-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728622
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728622
    reference: chr 12
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.114A>T
  hgvsp: ENST00000378695.4:c.114A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8315T>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13266T>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9554T>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.114A>T
  hgvsp: ENST00000312442.2:c.114A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13266T>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11620T>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13266T>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13266T>A
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23540
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30530
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6560
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile38Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

12-75728627-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728627
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728627
    reference: chr 12
allele count: 2
allele frequency: 1.647826516824309e-5
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.119C>T
  hgvsp: ENSP00000310770.2:p.Ala40Val
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13271G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13271G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.119C>T
  hgvsp: ENSP00000367967.4:p.Ala40Val
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13271G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8320G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11625G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9559G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13271G>A
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14566
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala40Val
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: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

12-75728628-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728628
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728628
    reference: chr 12
allele count: 2
allele frequency: 1.647826516824309e-5
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13272G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.120C>T
  hgvsp: ENST00000312442.2:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.120C>T
  hgvsp: ENST00000378695.4:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11626G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8321G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13272G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9560G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13272G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13272G>A
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30523
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala40Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

12-75728639-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728639
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728639
    reference: chr 12
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13283C>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9571C>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.131G>C
  hgvsp: ENSP00000367967.4:p.Trp44Ser
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8332C>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13283C>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.131G>C
  hgvsp: ENSP00000310770.2:p.Trp44Ser
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11637C>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13283C>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13283C>G
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23531
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9489
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2921
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1695
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Trp44Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

12-75728644-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728644
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728644
    reference: chr 12
allele count: 12
allele frequency: 9.89282769991756e-5
allele num: 121300
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13288C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.136G>A
  hgvsp: ENSP00000310770.2:p.Gly46Ser
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13288C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.136G>A
  hgvsp: ENSP00000367967.4:p.Gly46Ser
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8337C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11642C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13288C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9576C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13288C>T
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5647
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4362
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9929
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly46Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

12-75728647-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728647
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728647
    reference: chr 12
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11645T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8340T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13291T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13291T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13291T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13291T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.139A>G
  hgvsp: ENSP00000310770.2:p.Lys47Glu
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9579T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.139A>G
  hgvsp: ENSP00000367967.4:p.Lys47Glu
  variant of: http://identifiers.org/hgnc/28392
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9346
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30371
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys47Glu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

12-75728662-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728662
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728662
    reference: chr 12
allele count: 1
allele frequency: 8.282808203293245e-6
allele num: 120732
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11660C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13306C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9594C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.154G>A
  hgvsp: ENSP00000367967.4:p.Ala52Thr
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13306C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.154G>A
  hgvsp: ENSP00000310770.2:p.Ala52Thr
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8355C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13306C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13306C>T
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala52Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

12-75728675-A-AATAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728675
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728679
    reference: chr 12
allele count: 3
allele frequency: 2.49804319949373e-5
allele num: 120094
alternate allele: AATAC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13323_476-13320dupGTAT
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.170_173dupACAT
  hgvsp: ENSP00000310770.2:p.Met58IlefsTer6
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11677_-394-11674dupGTAT
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.170_173dupACAT
  hgvsp: ENSP00000367967.4:p.Met58IlefsTer6
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13323_-645-13320dupGTAT
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8372_-130-8369dupGTAT
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9611_*372-9608dupGTAT
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13323_34-13320dupGTAT
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13323_34-13320dupGTAT
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5618
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2888
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4304
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Met58IlefsTer6
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

12-75728676-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728676
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728676
    reference: chr 12
allele count: 4
allele frequency: 3.334556003868085e-5
allele num: 119956
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11674T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13320T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.168A>G
  hgvsp: ENST00000312442.2:c.168A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13320T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9608T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8369T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13320T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.168A>G
  hgvsp: ENST00000378695.4:c.168A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13320T>C
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23203
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5617
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3319
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys56Lys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD

12-75728680-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728680
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728680
    reference: chr 12
allele count: 2
allele frequency: 1.670732114812711e-5
allele num: 119708
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13324T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.172A>G
  hgvsp: ENSP00000310770.2:p.Met58Val
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13324T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9612T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13324T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.172A>G
  hgvsp: ENSP00000367967.4:p.Met58Val
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13324T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11678T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8373T>C
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6526
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27947
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met58Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

12-75728681-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728681
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728681
    reference: chr 12
allele count: 2
allele frequency: 1.670704201821068e-5
allele num: 119710
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11679A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13325A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13325A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9613A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.173T>C
  hgvsp: ENSP00000310770.2:p.Met58Thr
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13325A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13325A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.173T>C
  hgvsp: ENSP00000367967.4:p.Met58Thr
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8374A>G
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7506
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6525
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4289
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Met58Thr
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum

12-75728685-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728685
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728685
    reference: chr 12
allele count: 1
allele frequency: 8.374788536589452e-6
allele num: 119406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.174+3G>A
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8378C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9617C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13329C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.174+3G>A
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11683C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13329C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13329C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13329C>T
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14303
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 8.75e1
  variant carriers: 0
hgvs: c.174+3G>A
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

12-75728691-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728691
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728691
    reference: chr 12
allele count: 24
allele frequency: 2.017383117865609e-4
allele num: 118966
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9623C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.174+9G>A
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13335C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.174+9G>A
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8384C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13335C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13335C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11689C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13335C>T
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6482
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14156
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 22498
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3246
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/12-75728694-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728694
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728694
    reference: chr 12
allele count: 2
allele frequency: 1.686369078736572e-5
allele num: 118598
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13338G>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13338G>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.174+12C>A
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13338G>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11692G>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8387G>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9626G>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13338G>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.174+12C>A
  variant of: http://identifiers.org/hgnc/28392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5557
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6089
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6505
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

12-75728695-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728695
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728695
    reference: chr 12
allele count: 1
allele frequency: 8.444947387977773e-6
allele num: 118414
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13339G>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13339G>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8388G>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13339G>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11693G>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13339G>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.174+13C>G
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.174+13C>G
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9627G>C
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5533
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

12-75728696-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728696
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728696
    reference: chr 12
allele count: 1
allele frequency: 8.443236123541432e-6
allele num: 118438
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11694T>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13340T>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9628T>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13340T>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.174+14A>T
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8389T>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13340T>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.174+14A>T
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13340T>A
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13866
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25225
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3203
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD

12-75728697-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728697
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728697
    reference: chr 12
allele count: 1
allele frequency: 8.447801037389967e-6
allele num: 118374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8390C>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13341C>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9629C>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13341C>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13341C>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.174+15G>C
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.174+15G>C
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11695C>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13341C>G
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5517
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25041
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6501
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

12-75728698-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728698
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728698
    reference: chr 12
allele count: 13
allele frequency: 1.098938256576723e-4
allele num: 118296
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13342C>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13342C>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11696C>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.174+16G>C
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13342C>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.174+16G>C
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13342C>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9630C>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8391C>G
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21748
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13750
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3444
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24849
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

12-75728700-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728700
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728700
    reference: chr 12
allele count: 2
allele frequency: 1.69434090138936e-5
allele num: 118040
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13344G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.174+18C>T
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11698G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13344G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8393G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.174+18C>T
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13344G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13344G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9632G>A
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3989
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5476
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2816
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9159
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-75728701-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728701
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728701
    reference: chr 12
allele count: 1
allele frequency: 8.471848048933394e-6
allele num: 118038
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13345A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13345A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13345A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.174+19T>C
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13345A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8394A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.174+19T>C
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9633A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11699A>G
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5759
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3149
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-75728705-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728705
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728705
    reference: chr 12
allele count: 1
allele frequency: 8.511652452207071e-6
allele num: 117486
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.174+23C>T
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8398G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9637G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13349G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13349G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.174+23C>T
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13349G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11703G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13349G>A
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4803
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20391
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8893
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/12-75728707-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728707
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728707
    reference: chr 12
allele count: 1
allele frequency: 8.520355128401752e-6
allele num: 117366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.174+25C>A
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13351G>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9639G>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11705G>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13351G>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13351G>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13351G>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8400G>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.174+25C>A
  variant of: http://identifiers.org/hgnc/28392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12766
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5094
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6476
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3023
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-75728711-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728711
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728711
    reference: chr 12
allele count: 1
allele frequency: 8.537230863797019e-6
allele num: 117134
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13355T>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8404T>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13355T>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.174+29A>C
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11709T>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9643T>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13355T>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13355T>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.174+29A>C
  variant of: http://identifiers.org/hgnc/28392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5501
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20858
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

12-75728715-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728715
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728715
    reference: chr 12
allele count: 1
allele frequency: 8.609853115905842e-6
allele num: 116146
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.174+33C>T
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9647G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13359G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11713G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13359G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13359G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13359G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8408G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.174+33C>T
  variant of: http://identifiers.org/hgnc/28392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5874
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7607
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11095
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1627
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1507
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4415
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/12-75728729-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75728729
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75728729
    reference: chr 12
allele count: 5
allele frequency: 4.358665899541468e-5
allele num: 114714
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-9661T>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-13373T>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-13373T>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-13373T>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.174+47A>C
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-11727T>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.174+47A>C
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-8422T>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-13373T>G
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8561
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9286
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5591
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4759
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

12-75737428-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75737428
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75737428
    reference: chr 12
allele count: 4
allele frequency: 5.386770092652445e-5
allele num: 74256
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-22072G>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-20426G>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-18360G>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-22072G>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-22072G>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.175-45C>G
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.175-45C>G
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-22072G>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-17121G>C
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8008
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6297
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18418
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5059
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17899
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2722
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5265
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

12-75737433-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75737433
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75737433
    reference: chr 12
allele count: 1
allele frequency: 1.328232918924663e-5
allele num: 75288
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-22077T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-22077T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-20431T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-22077T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.175-40A>G
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-18365T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-22077T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.175-40A>G
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-17126T>C
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5768
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17748
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6230
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ

12-75737449-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75737449
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75737449
    reference: chr 12
allele count: 15
allele frequency: 1.860811313732788e-4
allele num: 80610
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-22093T>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-18381T>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-22093T>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-20447T>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.175-24A>T
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-22093T>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-17142T>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.175-24A>T
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-22093T>A
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11649
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20143
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17833
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2086
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

12-75737473-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75737473
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75737473
    reference: chr 12
allele count: 2
allele frequency: 1.898830320522558e-5
allele num: 105328
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-22117T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-17166T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-22117T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.175A>G
  hgvsp: ENSP00000367967.4:p.Ile59Val
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-22117T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-22117T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.175A>G
  hgvsp: ENSP00000310770.2:p.Ile59Val
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-18405T>C
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-20471T>C
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7776
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40033
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile59Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-75737474-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75737474
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75737474
    reference: chr 12
allele count: 1
allele frequency: 9.414422895876483e-6
allele num: 106220
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-20472A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-22118A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-22118A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.176T>C
  hgvsp: ENSP00000367967.4:p.Ile59Thr
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-18406A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.176T>C
  hgvsp: ENSP00000310770.2:p.Ile59Thr
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-22118A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-22118A>G
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-17167A>G
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40925
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2085
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile59Thr
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

12-75737486-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75737486
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75737486
    reference: chr 12
allele count: 1
allele frequency: 8.902499821950003e-6
allele num: 112328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-22130C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-17179C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.188G>A
  hgvsp: ENSP00000367967.4:p.Gly63Asp
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.188G>A
  hgvsp: ENSP00000310770.2:p.Gly63Asp
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-18418C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-20484C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-22130C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-22130C>T
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-22130C>T
  variant of: http://identifiers.org/hgnc/16471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4568
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly63Asp
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

12-75737486-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75737486
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75737486
    reference: chr 12
allele count: 1
allele frequency: 8.902499821950003e-6
allele num: 112328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-20484C>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-18418C>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.188G>T
  hgvsp: ENSP00000367967.4:p.Gly63Val
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-22130C>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-22130C>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-17179C>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-22130C>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-22130C>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.188G>T
  hgvsp: ENSP00000310770.2:p.Gly63Val
  variant of: http://identifiers.org/hgnc/28392
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6924
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4568
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly63Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

12-75737492-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75737492
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 75737492
    reference: chr 12
allele count: 3
allele frequency: 2.627338331114692e-5
allele num: 114184
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000367967
  ensembl transcript: ENST00000378695
  gene symbol: GLIPR1L1
  hgvsc: ENST00000378695.4:c.194C>T
  hgvsp: ENSP00000367967.4:p.Ala65Val
  variant of: http://identifiers.org/hgnc/28392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000389633
  ensembl transcript: ENST00000442339
  gene symbol: CAPS2
  hgvsc: ENST00000442339.2:c.-645-22136G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000449797
  ensembl transcript: ENST00000552497
  gene symbol: CAPS2
  hgvsc: ENST00000552497.1:c.34-22136G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000447737
  ensembl transcript: ENST00000551829
  gene symbol: CAPS2
  hgvsc: ENST00000551829.1:c.-394-20490G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000411797
  ensembl transcript: ENST00000436898
  gene symbol: CAPS2
  hgvsc: ENST00000436898.1:c.-130-17185G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000331007
  ensembl transcript: ENST00000328705
  gene symbol: CAPS2
  hgvsc: ENST00000328705.3:c.*372-18424G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl protein: ENSP00000338474
  ensembl transcript: ENST00000336815
  gene symbol: CAPS2
  hgvsc: ENST00000336815.6:c.34-22136G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180881
  ensembl transcript: ENST00000486196
  gene symbol: CAPS2
  hgvsc: ENST00000486196.1:n.476-22136G>A
  variant of: http://identifiers.org/hgnc/16471
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173401
  ensembl protein: ENSP00000310770
  ensembl transcript: ENST00000312442
  gene symbol: GLIPR1L1
  hgvsc: ENST00000312442.2:c.194C>T
  hgvsp: ENSP00000310770.2:p.Ala65Val
  variant of: http://identifiers.org/hgnc/28392
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala65Val
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 946
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1565
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3121
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 256
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 418
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 100
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2146
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.151543067710732e-4
allele num: 8684
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.74e-1

MQ
type: SiteQuality
SIO_000300: 5.879e1

VQSLOD
type: SiteQuality
SIO_000300: -9.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.72e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.87e-2

MQRankSum
type: SiteQuality
SIO_000300: -6.879999999999999e-1

DP
type: SiteQuality
SIO_000300: 4.16701e5

QD
type: SiteQuality
SIO_000300: 1.358e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2144
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.151277918489523e-4
allele num: 8686
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7804
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -8.88e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.223e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.04e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.97e-2

FS
type: SiteQuality
SIO_000300: 5.856e0

DP
type: SiteQuality
SIO_000300: 4.17744e5

QD
type: SiteQuality
SIO_000300: 1.47e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 9

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

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.036388760939659e-3
allele num: 8684
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2146
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.17813e5

VQSLOD
type: SiteQuality
SIO_000300: 6.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.01e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.455e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.296e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-1

QD
type: SiteQuality
SIO_000300: 1.014e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8684
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2146
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.283038234539389e-4
allele num: 7794
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.113e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.01e-2

QD
type: SiteQuality
SIO_000300: 1.264e1

DP
type: SiteQuality
SIO_000300: 4.18575e5

MQ
type: SiteQuality
SIO_000300: 5.944e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10840
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545738399233314e-5
allele num: 64694
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.223e1

VQSLOD
type: SiteQuality
SIO_000300: -3.544e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

FS
type: SiteQuality
SIO_000300: 1.3813e1

MQRankSum
type: SiteQuality
SIO_000300: 1.74e0

MQ
type: SiteQuality
SIO_000300: 5.907e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.95e-1

DP
type: SiteQuality
SIO_000300: 1.958207e6

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10832
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.546216408448527e-5
allele num: 64674
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

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

East Asian
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allele count: 0
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allele num: 8612
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

QD
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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SIO_000300: -1.074e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.741840850751742e-3
allele num: 10908
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64686
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

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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MQ
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InbreedingCoeff
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DP
type: SiteQuality
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MQRankSum
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.266e1

GenotypeQuality
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variant carriers: 0

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

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

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

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

African
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East Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 3.073801985676083e-5
allele num: 65066
num of homozygotes: 0

Other
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ClippingRankSum
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QD
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MQRankSum
type: SiteQuality
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DP
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ReadPosRankSum
type: SiteQuality
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FS
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BaseQRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12730
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.532426137060194e-5
allele num: 65256
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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VQSLOD
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DP
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QD
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MQ
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SIO_000300: 5.884e1

ClippingRankSum
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SIO_000300: 1.24e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.602e0

FS
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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SIO_000300: -6.860000000000001e-1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
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allele count: 1
allele frequency: 1.531628120692296e-5
allele num: 65290
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

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

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

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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MQ
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BaseQRankSum
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ClippingRankSum
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SIO_000300: 7.98e-1

QD
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FS
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -8.06e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 2
allele frequency: 1.935359009096187e-4
allele num: 10334
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13008
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65324
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

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

East Asian
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allele count: 0
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FS
type: SiteQuality
SIO_000300: 3.383e0

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.088e0

MQRankSum
type: SiteQuality
SIO_000300: -9.360000000000001e-1

DP
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SIO_000300: 1.986204e6

ReadPosRankSum
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SIO_000300: 1.11e0

QD
type: SiteQuality
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BaseQRankSum
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SIO_000300: 3.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13008
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.530830935031535e-5
allele num: 65324
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.303e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
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SIO_000300: 1.11e0

ClippingRankSum
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SIO_000300: -1.088e0

FS
type: SiteQuality
SIO_000300: 3.383e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

DP
type: SiteQuality
SIO_000300: 1.986204e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -9.360000000000001e-1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65452
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.472724555372888e-5
allele num: 13382
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11542
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
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MQRankSum
type: SiteQuality
SIO_000300: -9.8e-2

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.984e1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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DP
type: SiteQuality
SIO_000300: 1.990191e6

FS
type: SiteQuality
SIO_000300: 1.464e0

VQSLOD
type: SiteQuality
SIO_000300: 7.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.998e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.071e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 2
allele frequency: 1.934610176049526e-4
allele num: 10338
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65498
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8640
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Latino
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allele count: 1
allele frequency: 8.662508662508663e-5
allele num: 11544
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.71e-1

VQSLOD
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MQ
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DP
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ReadPosRankSum
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QD
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BaseQRankSum
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MQRankSum
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FS
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.521375323292256e-5
allele num: 65730
num of homozygotes: 0

South Asian
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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Latino
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allele count: 0
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Other
type: Population
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allele num: 882
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MQ
type: SiteQuality
SIO_000300: 5.966e1

ClippingRankSum
type: SiteQuality
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FS
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InbreedingCoeff
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QD
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DP
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MQRankSum
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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European (Finnish)
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African
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Latino
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East Asian
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European (Non-Finnish)
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allele num: 65752
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MQ
type: SiteQuality
SIO_000300: 5.933e1

ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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FS
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BaseQRankSum
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DP
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ClippingRankSum
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511395925276585e-5
allele num: 66164
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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Latino
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East Asian
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Other
type: Population
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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African
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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QD
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MQ
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VQSLOD
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MQRankSum
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SIO_000300: 7.23e-1

FS
type: SiteQuality
SIO_000300: 2.616e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

DP
type: SiteQuality
SIO_000300: 2.020311e6

GenotypeQuality
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15630
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -1.0e-4

MQRankSum
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VQSLOD
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QD
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.024126e6

FS
type: SiteQuality
SIO_000300: 9.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.29e-1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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South Asian
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: 6.95e-1

BaseQRankSum
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MQ
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SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
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DP
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FS
type: SiteQuality
SIO_000300: 9.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 22

GenotypeQuality
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.50652324565368e-5
allele num: 66378
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15846
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 21
allele frequency: 2.019230769230769e-3
allele num: 10400
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Latino
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: -5.715e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.65e-1

FS
type: SiteQuality
SIO_000300: 2.663e0

VQSLOD
type: SiteQuality
SIO_000300: 2.95e0

ReadPosRankSum
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SIO_000300: 3.67e-1

MQ
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SIO_000300: 5.271e1

QD
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BaseQRankSum
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SIO_000300: 1.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
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SIO_000300: 2.029317e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 17
allele frequency: 1.96577243293247e-3
allele num: 8648
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66472
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 904
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.81e0

FS
type: SiteQuality
SIO_000300: 5.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.034933e6

VQSLOD
type: SiteQuality
SIO_000300: 2.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.929e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 1
allele frequency: 6.125199068969742e-5
allele num: 16326
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 4
allele frequency: 6.007810153199159e-5
allele num: 66580
num of homozygotes: 0

East Asian
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Other
type: Population
allele count: 0
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African
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QD
type: SiteQuality
SIO_000300: 1.297e1

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 9.85e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
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SIO_000300: -1.115e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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European (Finnish)
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allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

South Asian
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European (Non-Finnish)
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allele count: 0
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Other
type: Population
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ReadPosRankSum
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SIO_000300: 4.43e-1

FS
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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MQ
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DP
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MQRankSum
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BaseQRankSum
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

African
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South Asian
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European (Finnish)
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allele num: 6614
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Other
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European (Non-Finnish)
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allele count: 4
allele frequency: 6.000240009600384e-5
allele num: 66664
num of homozygotes: 0

Latino
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.6e-2

InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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MQ
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ClippingRankSum
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
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num of homozygotes: 0

African
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East Asian
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European (Finnish)
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allele count: 31
allele frequency: 4.68702751738736e-3
allele num: 6614
num of homozygotes: 0

South Asian
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Other
type: Population
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allele frequency: 1.103752759381898e-3
allele num: 906
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European (Non-Finnish)
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allele count: 4
allele frequency: 6.000240009600384e-5
allele num: 66664
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QD
type: SiteQuality
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VQSLOD
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MQ
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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FS
type: SiteQuality
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8666
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.525785779676533e-4
allele num: 6554
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66662
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.69e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.63e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.648e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

QD
type: SiteQuality
SIO_000300: 4.19e0

DP
type: SiteQuality
SIO_000300: 2.038863e6

GenotypeQuality
all individuals: 2766
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 1

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

GenotypeQuality
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GenotypeQuality
all individuals: 3262
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variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
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GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 8651
bin: 9.75e1
variant carriers: 31

GenotypeQuality
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bin: 7.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1573
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 1

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

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

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

European (Finnish)
type: Population
allele count: 8
allele frequency: 1.210653753026634e-3
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 23
allele frequency: 3.449620541740408e-4
allele num: 66674
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 6.726888333653661e-4
allele num: 10406
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.961e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-2

QD
type: SiteQuality
SIO_000300: 1.9e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.416e0

VQSLOD
type: SiteQuality
SIO_000300: -1.439e1

FS
type: SiteQuality
SIO_000300: 5.3515e1

DP
type: SiteQuality
SIO_000300: 2.043189e6

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

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 9474
bin: 6.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1574
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2767
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.959e1

FS
type: SiteQuality
SIO_000300: 3.547e0

VQSLOD
type: SiteQuality
SIO_000300: -2.744e0

DP
type: SiteQuality
SIO_000300: 2.043903e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQRankSum
type: SiteQuality
SIO_000300: 3.55e-1

QD
type: SiteQuality
SIO_000300: 2.643e1

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

GenotypeQuality
all individuals: 3263
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 1574
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variant carriers: 0

GenotypeQuality
all individuals: 2765
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 8680
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variant carriers: 3

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 29530
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variant carriers: 0

GenotypeQuality
all individuals: 9473
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1186
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.6714e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.732e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.95e-1

DP
type: SiteQuality
SIO_000300: 2.043719e6

MQ
type: SiteQuality
SIO_000300: 5.959e1

VQSLOD
type: SiteQuality
SIO_000300: -1.633e1

QD
type: SiteQuality
SIO_000300: 1.41e0

GenotypeQuality
all individuals: 60
bin: 1.25e1
variant carriers: 18

GenotypeQuality
all individuals: 71
bin: 4.75e1
variant carriers: 29

GenotypeQuality
all individuals: 76
bin: 2.75e1
variant carriers: 18

GenotypeQuality
all individuals: 2593
bin: 2.5e0
variant carriers: 17

GenotypeQuality
all individuals: 66
bin: 3.75e1
variant carriers: 20

GenotypeQuality
all individuals: 54
bin: 1.75e1
variant carriers: 14

GenotypeQuality
all individuals: 94
bin: 2.25e1
variant carriers: 25

GenotypeQuality
all individuals: 79
bin: 7.5e0
variant carriers: 24

GenotypeQuality
all individuals: 3207
bin: 7.25e1
variant carriers: 22

GenotypeQuality
all individuals: 1475
bin: 9.25e1
variant carriers: 21

GenotypeQuality
all individuals: 6135
bin: 9.75e1
variant carriers: 1241

GenotypeQuality
all individuals: 62
bin: 5.25e1
variant carriers: 14

GenotypeQuality
all individuals: 1127
bin: 8.75e1
variant carriers: 21

GenotypeQuality
all individuals: 29375
bin: 6.25e1
variant carriers: 24

GenotypeQuality
all individuals: 4029
bin: 7.75e1
variant carriers: 19

African
type: Population
allele count: 341
allele frequency: 3.593256059009484e-2
allele num: 9490
num of homozygotes: 0

Latino
type: Population
allele count: 16
allele frequency: 1.398845952089526e-3
allele num: 11438
num of homozygotes: 0

East Asian
type: Population
allele count: 28
allele frequency: 3.28253223915592e-3
allele num: 8530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 211
allele frequency: 3.709563994374121e-2
allele num: 5688
num of homozygotes: 0

Other
type: Population
allele count: 17
allele frequency: 2.048192771084337e-2
allele num: 830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 920
allele frequency: 1.453258774839668e-2
allele num: 63306
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.426301103967002e-4
allele num: 16486
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.275079e6

QD
type: SiteQuality
SIO_000300: 1.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.79e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.896e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

FS
type: SiteQuality
SIO_000300: 1.90751e2

VQSLOD
type: SiteQuality
SIO_000300: -1.779e2

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.87e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.566e0

GenotypeQuality
all individuals: 2925
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 3368
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

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

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

GenotypeQuality
all individuals: 1260
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variant carriers: 0

GenotypeQuality
all individuals: 1697
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variant carriers: 0

GenotypeQuality
all individuals: 4368
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30519
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.817741153659719e-4
allele num: 16504
num of homozygotes: 1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.4e-2

DP
type: SiteQuality
SIO_000300: 1.918895e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.660000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.98e-1

FS
type: SiteQuality
SIO_000300: 5.878e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.89e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.5e-2

QD
type: SiteQuality
SIO_000300: 1.773e1

VQSLOD
type: SiteQuality
SIO_000300: -7.811e-1

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

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

GenotypeQuality
all individuals: 3369
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

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

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

GenotypeQuality
all individuals: 4368
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1260
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 30532
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.4523e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.66e-1

DP
type: SiteQuality
SIO_000300: 1.919005e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.594e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.721e0

VQSLOD
type: SiteQuality
SIO_000300: -9.036e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.22e-1

MQ
type: SiteQuality
SIO_000300: 5.905e1

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30535
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 1259
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 9938
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variant carriers: 0

GenotypeQuality
all individuals: 4368
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GenotypeQuality
all individuals: 6581
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e0

VQSLOD
type: SiteQuality
SIO_000300: 2.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.503e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.955e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.591e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.847e0

DP
type: SiteQuality
SIO_000300: 1.918863e6

GenotypeQuality
all individuals: 9938
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1259
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GenotypeQuality
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GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 2924
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variant carriers: 0

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

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6581
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.602e1

MQ
type: SiteQuality
SIO_000300: 5.934e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

BaseQRankSum
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SIO_000300: 4.54e0

InbreedingCoeff
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SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.027e0

FS
type: SiteQuality
SIO_000300: 2.094e0

MQRankSum
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SIO_000300: 6.96e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.918865e6

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

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

East Asian
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ReadPosRankSum
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QD
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BaseQRankSum
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VQSLOD
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FS
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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SIO_000300: 1.918919e6

MQ
type: SiteQuality
SIO_000300: 5.985e1

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

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

East Asian
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allele frequency: 0.0e0
allele num: 8654
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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

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

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

FS
type: SiteQuality
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MQRankSum
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VQSLOD
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MQ
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SIO_000300: 5.986e1

ClippingRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

African
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allele count: 21
allele frequency: 2.018066500096098e-3
allele num: 10406
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.319e0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.56e-1

FS
type: SiteQuality
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VQSLOD
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BaseQRankSum
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DP
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InbreedingCoeff
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SIO_000300: -2.0e-4

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-1

GenotypeQuality
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variant carriers: 0

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

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

African
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allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.266e-1

FS
type: SiteQuality
SIO_000300: 1.84e0

QD
type: SiteQuality
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InbreedingCoeff
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DP
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SIO_000300: 1.917186e6

ReadPosRankSum
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MQRankSum
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ClippingRankSum
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SIO_000300: 5.76e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

BaseQRankSum
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SIO_000300: -8.22e-1

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele frequency: 1.211387038158692e-4
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East Asian
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
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Other
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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FS
type: SiteQuality
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MQ
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MQRankSum
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ReadPosRankSum
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QD
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DP
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InbreedingCoeff
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GenotypeQuality
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variant carriers: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele num: 16510
num of homozygotes: 0

European (Finnish)
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Other
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East Asian
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Latino
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QD
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MQRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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DP
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FS
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66680
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East Asian
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European (Finnish)
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Latino
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Other
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African
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South Asian
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FS
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MQRankSum
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MQ
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BaseQRankSum
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ReadPosRankSum
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DP
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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European (Non-Finnish)
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African
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allele frequency: 1.153180857197771e-3
allele num: 10406
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South Asian
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Other
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MQRankSum
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InbreedingCoeff
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FS
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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DP
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MQ
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5004651441947e-5
allele num: 66646
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 6.982e0

ReadPosRankSum
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VQSLOD
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QD
type: SiteQuality
SIO_000300: 1.536e1

DP
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SIO_000300: 1.914704e6

MQ
type: SiteQuality
SIO_000300: 5.861e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.33e0

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 1
allele frequency: 6.191183754333828e-5
allele num: 16152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66446
num of homozygotes: 0

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.905321e6

BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 4.163e0

MQRankSum
type: SiteQuality
SIO_000300: -7.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.53e-1

MQ
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SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.65e-1

QD
type: SiteQuality
SIO_000300: 1.067e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.59e-1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15728
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.526525439072967e-5
allele num: 66276
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.66e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.145e0

DP
type: SiteQuality
SIO_000300: 1.891888e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.36e-1

FS
type: SiteQuality
SIO_000300: 2.945e0

QD
type: SiteQuality
SIO_000300: 1.146e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.572e1

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66238
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15644
num of homozygotes: 0

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

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

African
type: Population
allele count: 4
allele frequency: 3.855050115651503e-4
allele num: 10376
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.952e1

DP
type: SiteQuality
SIO_000300: 1.88896e6

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e0

MQRankSum
type: SiteQuality
SIO_000300: 7.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.88e-1

FS
type: SiteQuality
SIO_000300: 6.812e0

QD
type: SiteQuality
SIO_000300: 1.237e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.14e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.883234e6

QD
type: SiteQuality
SIO_000300: 1.411e1

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

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

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

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

East Asian
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allele frequency: 1.157407407407407e-4
allele num: 8640
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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DP
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MQ
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ClippingRankSum
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ReadPosRankSum
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FS
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BaseQRankSum
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QD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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East Asian
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Latino
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num of homozygotes: 0

South Asian
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InbreedingCoeff
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ReadPosRankSum
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QD
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MQ
type: SiteQuality
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DP
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VQSLOD
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BaseQRankSum
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FS
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

European (Non-Finnish)
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African
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Other
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allele num: 884
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European (Finnish)
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allele count: 0
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East Asian
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South Asian
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allele frequency: 1.528036141376561e-3
allele num: 15052
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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FS
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InbreedingCoeff
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VQSLOD
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MQRankSum
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ClippingRankSum
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MQ
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65820
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.735821096591675e-5
allele num: 14846
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.680555555555556e-5
allele num: 11520
num of homozygotes: 0

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

Other
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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: 8614
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.129e1

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.846276e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.81e-1

MQRankSum
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SIO_000300: -1.16e-1

BaseQRankSum
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SIO_000300: -4.11e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.92e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14732
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.686587908269631e-5
allele num: 11512
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65768
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.618e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-1

FS
type: SiteQuality
SIO_000300: 2.91e0

VQSLOD
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BaseQRankSum
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SIO_000300: -2.117e0

InbreedingCoeff
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SIO_000300: 4.0e-4

MQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.839684e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.91e-1

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520588771972508e-5
allele num: 65764
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14764
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.432e1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.823e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

DP
type: SiteQuality
SIO_000300: 1.838698e6

VQSLOD
type: SiteQuality
SIO_000300: 1.56e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521097624045511e-5
allele num: 65742
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14728
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.953e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 1.795e0

MQRankSum
type: SiteQuality
SIO_000300: 6.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.367e0

DP
type: SiteQuality
SIO_000300: 1.834904e6

QD
type: SiteQuality
SIO_000300: 1.276e1

VQSLOD
type: SiteQuality
SIO_000300: 5.42e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 13

GenotypeQuality
all individuals: 1664
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.043398867855621e-5
allele num: 65716
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

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

South Asian
type: Population
allele count: 11
allele frequency: 7.488087134104834e-4
allele num: 14690
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.83178e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

FS
type: SiteQuality
SIO_000300: 1.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.67e0

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

QD
type: SiteQuality
SIO_000300: 1.164e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.9e-2

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.883259911894274e-5
allele num: 14528
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523507724184162e-5
allele num: 65638
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 9.389999999999999e-1

FS
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 6.883259911894274e-5
allele num: 14528
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65644
num of homozygotes: 0

DP
type: SiteQuality
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VQSLOD
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MQRankSum
type: SiteQuality
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ClippingRankSum
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MQ
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SIO_000300: 6.0e1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 1
allele frequency: 7.02543206407194e-5
allele num: 14234
num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8584
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 5.85e1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529098749197223e-5
allele num: 65398
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.183e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.41e-1

InbreedingCoeff
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.94e1

MQRankSum
type: SiteQuality
SIO_000300: -8.21e-1

DP
type: SiteQuality
SIO_000300: 1.781247e6

FS
type: SiteQuality
SIO_000300: 3.774e0

QD
type: SiteQuality
SIO_000300: 1.005e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14042
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65348
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.715356458079135e-5
allele num: 11474
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

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: 4.0e-1

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.214e0

ReadPosRankSum
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SIO_000300: -7.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.761178e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.331e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.536948235583426e-5
allele num: 65064
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10190
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.701611e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.2e-1

QD
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.945e1

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 5
allele frequency: 3.910527139058345e-4
allele num: 12786
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64566
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8452
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

QD
type: SiteQuality
SIO_000300: 1.027e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.65e-1

DP
type: SiteQuality
SIO_000300: 1.63211e6

FS
type: SiteQuality
SIO_000300: 1.593e0

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 9.22e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 7272
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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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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African
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allele count: 0
allele frequency: 0.0e0
allele num: 6358
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 9.541984732824427e-5
allele num: 41920
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

DP
type: SiteQuality
SIO_000300: 8.28645e5

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -4.37e-1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -6.33e-1

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

African
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allele frequency: 1.549426712116517e-4
allele num: 6454
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4862
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South Asian
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Other
type: Population
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 6856
num of homozygotes: 0

Latino
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allele frequency: 1.0827197921178e-4
allele num: 9236
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 14
allele frequency: 3.106830588966313e-4
allele num: 45062
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European (Finnish)
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MQRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
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QD
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InbreedingCoeff
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SIO_000300: -3.8e-3

FS
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ReadPosRankSum
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MQ
type: SiteQuality
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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Other
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East Asian
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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MQ
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FS
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ClippingRankSum
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QD
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MQRankSum
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DP
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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South Asian
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allele frequency: 7.376807317792859e-5
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num of homozygotes: 0

European (Non-Finnish)
type: Population
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allele frequency: 0.0e0
allele num: 58076
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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European (Finnish)
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East Asian
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InbreedingCoeff
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FS
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MQ
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BaseQRankSum
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ReadPosRankSum
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QD
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VQSLOD
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DP
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4084
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1132
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2094
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61260
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11096
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14908
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9538
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.215953307392996e-4
allele num: 8224
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.233e0

DP
type: SiteQuality
SIO_000300: 1.360375e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.99e0

GenotypeQuality
all individuals: 286
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1204
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2094
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4084
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1132
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43438
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.048437827636821e-4
allele num: 9538
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11096
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61260
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8224
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.45e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.233e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.99e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.360375e6

QD
type: SiteQuality
SIO_000300: 6.51e0