19-38852363-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852363
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852363
    reference: chr 19
allele count: 1
allele frequency: 8.7139894386448e-6
allele num: 114758
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.1956G>A
  hgvsp: ENST00000409235.3:c.1956G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*269G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1836G>A
  hgvsp: ENST00000410018.1:c.1836G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1426G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386950
  ensembl transcript: ENST00000409410
  gene symbol: CATSPERG
  hgvsc: ENST00000409410.2:c.1956G>A
  hgvsp: ENST00000409410.2:c.1956G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*875G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*875G>A
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4863
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln652Gln
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-38852367-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852367
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852367
    reference: chr 19
allele count: 1
allele frequency: 8.752122389679497e-6
allele num: 114258
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386950
  ensembl transcript: ENST00000409410
  gene symbol: CATSPERG
  hgvsc: ENST00000409410.2:c.1960T>C
  hgvsp: ENSP00000386950.2:p.Tyr654His
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*879T>C
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1840T>C
  hgvsp: ENSP00000387057.1:p.Tyr614His
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*273T>C
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1430T>C
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*879T>C
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.1960T>C
  hgvsp: ENSP00000386962.3:p.Tyr654His
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11578
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5535
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40215
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4421
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7330
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Tyr654His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

19-38852380-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852380
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852380
    reference: chr 19
allele count: 1
allele frequency: 9.074904259760059e-6
allele num: 110194
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386950
  ensembl transcript: ENST00000409410
  gene symbol: CATSPERG
  hgvsc: ENST00000409410.2:c.1973A>T
  hgvsp: ENSP00000386950.2:p.Glu658Val
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1443A>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1853A>T
  hgvsp: ENSP00000387057.1:p.Glu618Val
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.1973A>T
  hgvsp: ENSP00000386962.3:p.Glu658Val
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*892A>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*286A>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*892A>T
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6833
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7231
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1762
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8924
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2409
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31991
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2529
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu658Val
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-38852382-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852382
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852382
    reference: chr 19
allele count: 1
allele frequency: 9.376465072667604e-6
allele num: 106650
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.1975C>T
  hgvsp: ENSP00000386962.3:p.Arg659Cys
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1855C>T
  hgvsp: ENSP00000387057.1:p.Arg619Cys
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*894C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1445C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*288C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386950
  ensembl transcript: ENST00000409410
  gene symbol: CATSPERG
  hgvsc: ENST00000409410.2:c.1975C>T
  hgvsp: ENSP00000386950.2:p.Arg659Cys
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*894C>T
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7916
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9960
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6807
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5090
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27411
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1856
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2960
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8226
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg659Cys
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

19-38852383-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852383
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852383
    reference: chr 19
allele count: 6
allele frequency: 5.616925669350309e-5
allele num: 106820
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*289G>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386950
  ensembl transcript: ENST00000409410
  gene symbol: CATSPERG
  hgvsc: ENST00000409410.2:c.1976G>T
  hgvsp: ENSP00000386950.2:p.Arg659Leu
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*895G>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1446G>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1856G>T
  hgvsp: ENSP00000387057.1:p.Arg619Leu
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*895G>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.1976G>T
  hgvsp: ENSP00000386962.3:p.Arg659Leu
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7873
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5104
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6841
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26818
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9989
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8398
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2211
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2891
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg659Leu
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/19-38852384-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852384
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852384
    reference: chr 19
allele count: 3206
allele frequency: 2.989388881636611e-2
allele num: 107246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1857C>A
  hgvsp: ENST00000410018.1:c.1857C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*896C>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1447C>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*290C>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.1977C>A
  hgvsp: ENST00000409235.3:c.1977C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*896C>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386950
  ensembl transcript: ENST00000409410
  gene symbol: CATSPERG
  hgvsc: ENST00000409410.2:c.1977C>A
  hgvsp: ENST00000409410.2:c.1977C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7871
  bin: 1.75e1
  variant carriers: 440
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 3.75e1
  variant carriers: 295
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 113
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 166
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 5101
  bin: 7.5e0
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 25881
  bin: 2.25e1
  variant carriers: 461
genotype depth: GenotypeDepth
  all individuals: 6883
  bin: 1.25e1
  variant carriers: 307
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 304
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 3.25e1
  variant carriers: 362
genotype depth: GenotypeDepth
  all individuals: 9806
  bin: 2.75e1
  variant carriers: 440
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 7.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 5.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 27293
  bin: 6.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 2387
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 8.25e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 5.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 2759
  bin: 6.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 1.75e1
  variant carriers: 5
hgvs: p.Arg659Arg
num of homozygotes: 73
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

19-38852385-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852385
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852385
    reference: chr 19
allele count: 1
allele frequency: 9.350513343182541e-6
allele num: 106946
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1448T>C
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*897T>C
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386950
  ensembl transcript: ENST00000409410
  gene symbol: CATSPERG
  hgvsc: ENST00000409410.2:c.1978T>C
  hgvsp: ENSP00000386950.2:p.Tyr660His
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.1978T>C
  hgvsp: ENSP00000386962.3:p.Tyr660His
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*291T>C
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1858T>C
  hgvsp: ENSP00000387057.1:p.Tyr620His
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*897T>C
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7839
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10275
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7052
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2533
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1411
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29035
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8874
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2462
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Tyr660His
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS

19-38852387-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852387
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852387
    reference: chr 19
allele count: 1
allele frequency: 9.829555507499951e-6
allele num: 101734
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*899C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386950
  ensembl transcript: ENST00000409410
  gene symbol: CATSPERG
  hgvsc: ENST00000409410.2:c.1980C>T
  hgvsp: ENST00000409410.2:c.1980C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.1980C>T
  hgvsp: ENST00000409235.3:c.1980C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1860C>T
  hgvsp: ENST00000410018.1:c.1860C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*899C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*293C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1450C>T
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5911
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7530
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2931
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2640
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7217
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Tyr660Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/19-38852388-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852388
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852388
    reference: chr 19
allele count: 1
allele frequency: 9.838452608173786e-6
allele num: 101642
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*900C>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.1981C>A
  hgvsp: ENST00000409235.3:c.1981C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*294C>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1861C>A
  hgvsp: ENST00000410018.1:c.1861C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1451C>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386950
  ensembl transcript: ENST00000409410
  gene symbol: CATSPERG
  hgvsc: ENST00000409410.2:c.1981C>A
  hgvsp: ENST00000409410.2:c.1981C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*900C>A
  variant of: http://identifiers.org/hgnc/25243
canonical: false
consequence: incomplete terminal codon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7483
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5948
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10452
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24741
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2138
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1599
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2912
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2947
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7324
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24823
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ter661Ter
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

19-38852393-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852393
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852393
    reference: chr 19
allele count: 1
allele frequency: 9.840001574400252e-6
allele num: 101626
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1866G>A
  hgvsp: ENST00000410018.1:c.1866G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*905G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*905G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1456G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.1986G>A
  hgvsp: ENST00000409235.3:c.1986G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*299G>A
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10449
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7097
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6963
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1842
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2866
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2800
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2739
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2172
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala662Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD

19-38852397-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852397
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852397
    reference: chr 19
allele count: 1
allele frequency: 9.375761780644678e-6
allele num: 106658
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.1990C>T
  hgvsp: ENSP00000386962.3:p.Pro664Ser
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1870C>T
  hgvsp: ENSP00000387057.1:p.Pro624Ser
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*909C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1460C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*909C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*303C>T
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7040
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5766
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9347
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2561
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2054
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2066
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3652
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro664Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

19-38852399-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852399
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852399
    reference: chr 19
allele count: 1
allele frequency: 9.372598271692879e-6
allele num: 106694
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*911G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*911G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.1992G>A
  hgvsp: ENST00000409235.3:c.1992G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*305G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1462G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1872G>A
  hgvsp: ENST00000410018.1:c.1872G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12511
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5871
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6778
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9493
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1713
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro664Pro
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/19-38852403-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852403
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852403
    reference: chr 19
allele count: 1
allele frequency: 9.375937593759377e-6
allele num: 106656
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*309C>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*915C>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.1996C>A
  hgvsp: ENSP00000386962.3:p.Arg666Ser
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1876C>A
  hgvsp: ENSP00000387057.1:p.Arg626Ser
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*915C>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1466C>A
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28089
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6595
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35740
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9827
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1778
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg666Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

19-38852406-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852406
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852406
    reference: chr 19
allele count: 1
allele frequency: 9.410347618241017e-6
allele num: 106266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*918G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.1999G>A
  hgvsp: ENSP00000386962.3:p.Val667Ile
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*312G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1469G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1879G>A
  hgvsp: ENSP00000387057.1:p.Val627Ile
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*918G>A
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6721
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3737
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10149
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3534
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val667Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

19-38852409-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852409
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852409
    reference: chr 19
allele count: 1
allele frequency: 9.435920662779067e-6
allele num: 105978
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*315C>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1882C>G
  hgvsp: ENSP00000387057.1:p.Leu628Val
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*921C>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*921C>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1472C>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2002C>G
  hgvsp: ENSP00000386962.3:p.Leu668Val
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6756
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6678
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10412
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34178
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3525
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu668Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD

19-38852409-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852409
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852409
    reference: chr 19
allele count: 1
allele frequency: 9.435920662779067e-6
allele num: 105978
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*921C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*921C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1472C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2002C>T
  hgvsp: ENST00000409235.3:c.2002C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1882C>T
  hgvsp: ENST00000410018.1:c.1882C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*315C>T
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6756
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6678
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34178
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10412
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu668Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-38852419-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852419
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852419
    reference: chr 19
allele count: 2
allele frequency: 1.90110454173875e-5
allele num: 105202
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2012C>A
  hgvsp: ENSP00000386962.3:p.Ser671Ter
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1482C>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1892C>A
  hgvsp: ENSP00000387057.1:p.Ser631Ter
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*931C>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*325C>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*931C>A
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12067
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6793
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33269
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10973
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser671Ter
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum

19-38852430-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852430
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852430
    reference: chr 19
allele count: 2
allele frequency: 1.910949742021785e-5
allele num: 104660
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*336A>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2023A>G
  hgvsp: ENSP00000386962.3:p.Asn675Asp
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1903A>G
  hgvsp: ENSP00000387057.1:p.Asn635Asp
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*942A>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1493A>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*942A>G
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7757
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6785
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11809
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3603
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3373
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1803
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn675Asp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-38852432-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852432
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852432
    reference: chr 19
allele count: 4
allele frequency: 3.837224918938624e-5
allele num: 104242
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1905C>G
  hgvsp: ENSP00000387057.1:p.Asn635Lys
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*944C>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*944C>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1495C>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*338C>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2025C>G
  hgvsp: ENSP00000386962.3:p.Asn675Lys
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6907
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7912
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27478
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11693
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33150
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11974
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3331
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn675Lys
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

19-38852433-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852433
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852433
    reference: chr 19
allele count: 1
allele frequency: 9.594534952890833e-6
allele num: 104226
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*339G>C
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*945G>C
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1906G>C
  hgvsp: ENSP00000387057.1:p.Glu636Gln
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*945G>C
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1496G>C
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2026G>C
  hgvsp: ENSP00000386962.3:p.Glu676Gln
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7907
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3501
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6872
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11702
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11988
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1631
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33961
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu676Gln
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-38852438-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852438
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852438
    reference: chr 19
allele count: 1
allele frequency: 9.645619923992514e-6
allele num: 103674
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2031C>T
  hgvsp: ENST00000409235.3:c.2031C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1911C>T
  hgvsp: ENST00000410018.1:c.1911C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.469G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*344C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*950C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*950C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1501C>T
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7039
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1759
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3313
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33703
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn677Asn
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

19-38852444-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852444
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852444
    reference: chr 19
allele count: 1
allele frequency: 9.786651008025054e-6
allele num: 102180
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1507C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2037C>T
  hgvsp: ENST00000409235.3:c.2037C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*956C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*350C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1917C>T
  hgvsp: ENST00000410018.1:c.1917C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.463G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*956C>T
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8726
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1763
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32052
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu679Leu
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

19-38852453-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852453
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852453
    reference: chr 19
allele count: 9014
allele frequency: 9.009675355829203e-2
allele num: 100048
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1516C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*965C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2046C>T
  hgvsp: ENST00000409235.3:c.2046C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*965C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*359C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1926C>T
  hgvsp: ENST00000410018.1:c.1926C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.454G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 2.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 774
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 1.75e1
  variant carriers: 1475
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 3.75e1
  variant carriers: 487
genotype depth: GenotypeDepth
  all individuals: 23539
  bin: 2.25e1
  variant carriers: 1695
genotype depth: GenotypeDepth
  all individuals: 10399
  bin: 2.75e1
  variant carriers: 1401
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 3.25e1
  variant carriers: 966
genotype depth: GenotypeDepth
  all individuals: 8172
  bin: 1.25e1
  variant carriers: 793
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.25e1
  variant carriers: 224
genotype depth: GenotypeDepth
  all individuals: 9458
  bin: 7.5e0
  variant carriers: 194
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 116
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 61
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 5.25e1
  variant carriers: 74
genotype quality: GenotypeQuality
  all individuals: 7883
  bin: 9.75e1
  variant carriers: 7687
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.25e1
  variant carriers: 74
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.5e0
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 8.75e1
  variant carriers: 65
genotype quality: GenotypeQuality
  all individuals: 2345
  bin: 6.75e1
  variant carriers: 71
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 1.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 7.5e0
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 9.25e1
  variant carriers: 79
hgvs: p.Tyr682Tyr
num of homozygotes: 642
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

19-38852456-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852456
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852456
    reference: chr 19
allele count: 2
allele frequency: 2.072495906820584e-5
allele num: 96502
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1519G>C
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2049G>C
  hgvsp: ENSP00000386962.3:p.Gln683His
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*968G>C
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*968G>C
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1929G>C
  hgvsp: ENSP00000387057.1:p.Gln643His
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.451C>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*362G>C
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17395
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln683His
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

19-38852460-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852460
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852460
    reference: chr 19
allele count: 1
allele frequency: 1.052277127704352e-5
allele num: 95032
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*972C>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1933C>G
  hgvsp: ENSP00000387057.1:p.Leu645Val
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*972C>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.447G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2053C>G
  hgvsp: ENSP00000386962.3:p.Leu685Val
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*366C>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1523C>G
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11928
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10038
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10527
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1813
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2798
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18587
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu685Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

19-38852498-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852498
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852498
    reference: chr 19
allele count: 2
allele frequency: 2.830455703368242e-5
allele num: 70660
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1010C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1971C>T
  hgvsp: ENST00000410018.1:c.1971C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2091C>T
  hgvsp: ENST00000409235.3:c.2091C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1010C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1561C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.409G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*404C>T
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4825
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19008
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5266
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3303
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp697Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

19-38852500-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852500
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852500
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 69322
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.407T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1563A>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1012A>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*406A>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2093A>G
  hgvsp: ENSP00000386962.3:p.Lys698Arg
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1973A>G
  hgvsp: ENSP00000387057.1:p.Lys658Arg
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1012A>G
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4390
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19329
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19903
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2673
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5690
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32179
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9599
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys698Arg
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum

19-38852505-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852505
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852505
    reference: chr 19
allele count: 1
allele frequency: 1.667889785842951e-5
allele num: 59956
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1013+4G>C
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1974+4G>C
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*407+4G>C
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1013+4G>C
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.402C>G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2094+4G>C
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1564+4G>C
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7665
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4279
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21029
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18944
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5905
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1661
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3421
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2870
  bin: 3.25e1
  variant carriers: 0
hgvs: c.2094+4G>C
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

19-38852512-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852512
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852512
    reference: chr 19
allele count: 1
allele frequency: 1.870767388782879e-5
allele num: 53454
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1974+11G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2094+11G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*407+11G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.395C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1564+11G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1013+11G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1013+11G>A
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3603
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17448
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9359
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22458
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2077
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9761
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3077
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3039
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

19-38852514-C-CGGCG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852514
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852518
    reference: chr 19
allele count: 7
allele frequency: 1.315047905316551e-4
allele num: 53230
alternate allele: CGGCG
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1013+21_*1013+24dupGGGC
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2094+21_2094+24dupGGGC
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1013+21_*1013+24dupGGGC
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.389_392dupCGCC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*407+21_*407+24dupGGGC
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1564+21_*1564+24dupGGGC
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1974+21_1974+24dupGGGC
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17287
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22722
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9462
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2000
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2221
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9878
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30121
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

19-38852517-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852517
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852517
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 50468
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2094+16C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1974+16C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.390G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1564+16C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1013+16C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1013+16C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*407+16C>T
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16542
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23140
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10421
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2391
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10790
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4990
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2463
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS

19-38852518-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852518
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852518
    reference: chr 19
allele count: 1
allele frequency: 2.05456936226167e-5
allele num: 48672
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*407+17G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1013+17G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1564+17G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1974+17G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1013+17G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2094+17G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.389C>T
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23301
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16079
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11002
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3185
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2469
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11421
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2784
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28323
  bin: 2.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-38852521-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852521
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852521
    reference: chr 19
allele count: 3
allele frequency: 6.385967899868024e-5
allele num: 46978
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1013+20C>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1974+20C>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2094+20C>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*407+20C>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1564+20C>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.386G>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1013+20C>A
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15554
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11554
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2913
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2316
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4602
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2362
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2513
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum

19-38852523-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852523
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852523
    reference: chr 19
allele count: 4
allele frequency: 8.821064702509593e-5
allele num: 45346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1974+22G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1013+22G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.384C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2094+22G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1013+22G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*407+22G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1564+22G>A
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14884
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23917
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2405
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2881
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27780
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2373
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

19-38852526-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852526
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852526
    reference: chr 19
allele count: 35
allele frequency: 8.118765947575968e-4
allele num: 43110
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1013+25A>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2094+25A>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.381T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1564+25A>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1013+25A>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*407+25A>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1974+25A>G
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14144
  bin: 1.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24115
  bin: 7.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4095
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 26874
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3130
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2796
  bin: 2.75e1
  variant carriers: 1
num of homozygotes: 1
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

19-38852527-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852527
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852527
    reference: chr 19
allele count: 3
allele frequency: 7.288629737609329e-5
allele num: 41160
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*407+26G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1564+26G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.380C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1974+26G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2094+26G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1013+26G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1013+26G>A
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13868
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13469
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24174
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2382
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3624
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3625
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3425
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

19-38852529-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852529
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852529
    reference: chr 19
allele count: 1
allele frequency: 2.453626459907744e-5
allele num: 40756
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1974+28C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.378G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1564+28C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*407+28C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1013+28C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2094+28C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1013+28C>T
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13321
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13980
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14365
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3723
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3593
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/19-38852536-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852536
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852536
    reference: chr 19
allele count: 1
allele frequency: 2.721829069134458e-5
allele num: 36740
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1013+35C>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1974+35C>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2094+35C>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*407+35C>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.371G>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1564+35C>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1013+35C>A
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11747
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15374
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24704
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15750
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4957
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1435
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2372
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21613
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

19-38852537-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852537
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852537
    reference: chr 19
allele count: 1
allele frequency: 2.76380520700901e-5
allele num: 36182
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1013+36G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1974+36G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1564+36G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*407+36G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1013+36G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2094+36G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.370C>T
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11475
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15535
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24848
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2686
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2899
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1341
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16009
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21127
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5217
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

19-38852542-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852542
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852542
    reference: chr 19
allele count: 1
allele frequency: 2.991146207226609e-5
allele num: 33432
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2094+41T>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1564+41T>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1013+41T>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.365A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*407+41T>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1013+41T>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1974+41T>G
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15889
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25652
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5494
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2417
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2603
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6398
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17569
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-38852545-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852545
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852545
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 32098
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2094+44G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.362C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*407+44G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1013+44G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1013+44G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1564+44G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1974+44G>A
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2558
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26331
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9533
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16048
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6870
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

19-38852799-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852799
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852799
    reference: chr 19
allele count: 1
allele frequency: 4.27240878407246e-5
allele num: 23406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1975-51G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2095-51G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*408-51G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.326C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1014-51G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1014-51G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1565-51G>A
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27885
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17610
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7012
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7015
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD

19-38852800-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852800
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852800
    reference: chr 19
allele count: 1
allele frequency: 4.268761205498164e-5
allele num: 23426
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1565-50G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.325C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1014-50G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*408-50G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2095-50G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1014-50G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1975-50G>A
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27887
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17594
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2536
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7025
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4836
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum

19-38852803-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852803
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852804
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 23388
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1014-46dupT
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.321dupA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1014-46dupT
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1975-46dupT
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1565-46dupT
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*408-46dupT
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2095-46dupT
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27836
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17667
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19750
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4104
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8349
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

19-38852803-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852803
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852803
    reference: chr 19
allele count: 1
allele frequency: 4.275696938600992e-5
allele num: 23388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1975-47C>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.322G>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1565-47C>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1014-47C>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1014-47C>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*408-47C>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2095-47C>G
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 27836
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17667
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19750
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6955
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8349
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4104
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-38852805-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852805
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852805
    reference: chr 19
allele count: 47
allele frequency: 2.009062152688723e-3
allele num: 23394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1014-45C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1975-45C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.320G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2095-45C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1014-45C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*408-45C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1565-45C>T
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17853
  bin: 7.5e0
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 27700
  bin: 2.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 1.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20279
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 6748
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5921
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9383
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 6.75e1
  variant carriers: 6
num of homozygotes: 3
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

19-38852806-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852806
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852806
    reference: chr 19
allele count: 1
allele frequency: 4.265119849867781e-5
allele num: 23446
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2095-44G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1565-44G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.319C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1014-44G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*408-44G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1975-44G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1014-44G>A
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18046
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27580
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6571
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2923
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5397
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10222
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

19-38852810-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852810
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852810
    reference: chr 19
allele count: 5
allele frequency: 2.102430409553444e-4
allele num: 23782
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1014-40C>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1975-40C>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2095-40C>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1565-40C>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*408-40C>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1014-40C>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.315G>C
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26532
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19286
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2534
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2322
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3239
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 5598
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21266
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3552
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13593
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

19-38852810-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852810
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852810
    reference: chr 19
allele count: 1
allele frequency: 4.204860819106888e-5
allele num: 23782
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1014-40C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1014-40C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*408-40C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2095-40C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1975-40C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1565-40C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.315G>A
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19286
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26532
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3552
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5598
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13593
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2322
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3239
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/19-38852816-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852816
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852816
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 24562
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1014-34C>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1565-34C>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.309G>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1014-34C>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2095-34C>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1975-34C>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*408-34C>A
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22003
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24034
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4114
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20591
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17798
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2618
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

19-38852818-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852818
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852818
    reference: chr 19
allele count: 1
allele frequency: 4.015741707493374e-5
allele num: 24902
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1014-32A>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1014-32A>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.307T>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1565-32A>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2095-32A>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*408-32A>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1975-32A>T
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23046
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22932
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19290
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20084
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3758
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

19-38852819-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852819
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852819
    reference: chr 19
allele count: 3
allele frequency: 1.196935844238749e-4
allele num: 25064
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1014-31A>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1565-31A>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.306T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1014-31A>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*408-31A>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1975-31A>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2095-31A>G
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22658
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23320
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3729
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3583
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/19-38852821-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852821
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852821
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 25272
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2095-29C>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1014-29C>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.304G>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1014-29C>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1975-29C>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1565-29C>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*408-29C>A
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3800
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24082
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21871
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20227
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19315
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3793
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3323
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

19-38852822-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852822
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852822
    reference: chr 19
allele count: 1
allele frequency: 3.924030764401193e-5
allele num: 25484
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1565-28C>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2095-28C>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*408-28C>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.303G>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1014-28C>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1014-28C>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1975-28C>G
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3858
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21235
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24674
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18892
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3869
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2378
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

19-38852822-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852822
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852822
    reference: chr 19
allele count: 2
allele frequency: 7.848061528802385e-5
allele num: 25484
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1014-28C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1565-28C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2095-28C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1975-28C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.303G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*408-28C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1014-28C>T
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24674
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21235
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3858
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2378
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3869
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18892
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

19-38852826-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852826
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852826
    reference: chr 19
allele count: 1
allele frequency: 3.834355828220859e-5
allele num: 26080
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1014-24C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1565-24C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*408-24C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.299G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2095-24C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1975-24C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1014-24C>T
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19526
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1448
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2346
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22748
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

19-38852834-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852834
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852834
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 28526
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*408-16C>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1014-16C>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1975-16C>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2095-16C>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1565-16C>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1014-16C>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.291G>C
canonical: true
consequence: non coding transcript exon
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 29248
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15664
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4673
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14466
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4381
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1885
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum

19-38852834-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852834
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852834
    reference: chr 19
allele count: 1
allele frequency: 3.505573862441282e-5
allele num: 28526
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1014-16C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.291G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1014-16C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1565-16C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*408-16C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1975-16C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2095-16C>T
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15664
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4673
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25930
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1945
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14466
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2466
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/19-38852847-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852847
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852847
    reference: chr 19
allele count: 1
allele frequency: 2.793296089385475e-5
allele num: 35800
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.278G>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1975-3C>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*408-3C>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1014-3C>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1014-3C>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2095-3C>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1565-3C>A
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32943
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8790
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2045
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6284
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31278
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8473
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
hgvs: c.2095-3C>A
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/19-38852847-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852847
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852846
    reference: chr 19
allele count: 2
allele frequency: 5.58659217877095e-5
allele num: 35800
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*408-2delA
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.277delT
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1014-2delA
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1975-2delA
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2095-2delA
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1565-2delA
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1014-2delA
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8790
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32943
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8473
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 1.25e1
  variant carriers: 0
hgvs: c.2095-2delA
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: CA
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

19-38852851-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852851
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852851
    reference: chr 19
allele count: 8
allele frequency: 2.063344681729083e-4
allele num: 38772
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1976C>G
  hgvsp: ENSP00000387057.1:p.Pro659Arg
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1566C>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*409C>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2096C>G
  hgvsp: ENSP00000386962.3:p.Pro699Arg
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1015C>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.274G>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1015C>G
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33011
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7354
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7166
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7123
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro699Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ

19-38852852-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852852
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852852
    reference: chr 19
allele count: 1
allele frequency: 2.507271086149834e-5
allele num: 39884
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1977G>A
  hgvsp: ENST00000410018.1:c.1977G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.273C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*410G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1016G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2097G>A
  hgvsp: ENST00000409235.3:c.2097G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1567G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1016G>A
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6053
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6883
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32841
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1581
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2262
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 1.75e1
  variant carriers: 0
hgvs: c.2097G>A
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS

19-38852857-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852857
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852857
    reference: chr 19
allele count: 1
allele frequency: 2.252861133639722e-5
allele num: 44388
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.268G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2102C>T
  hgvsp: ENSP00000386962.3:p.Ala701Val
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1982C>T
  hgvsp: ENSP00000387057.1:p.Ala661Val
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*415C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1021C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1572C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1021C>T
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8168
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32011
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5411
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8969
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31287
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2321
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1694
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala701Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP

19-38852861-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852861
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852861
    reference: chr 19
allele count: 1
allele frequency: 2.013125578773604e-5
allele num: 49674
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2106C>G
  hgvsp: ENSP00000386962.3:p.Asp702Glu
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.264G>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*419C>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1025C>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1986C>G
  hgvsp: ENSP00000387057.1:p.Asp662Glu
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1576C>G
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1025C>G
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4276
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30827
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11014
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1876
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30502
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp702Glu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP

19-38852864-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852864
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852864
    reference: chr 19
allele count: 1
allele frequency: 1.867692652497105e-5
allele num: 53542
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1579G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.261C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1028G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2109G>A
  hgvsp: ENST00000409235.3:c.2109G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*422G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1028G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1989G>A
  hgvsp: ENST00000410018.1:c.1989G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29474
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3659
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2243
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2370
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro703Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD

19-38852867-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852867
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852867
    reference: chr 19
allele count: 1
allele frequency: 1.741553465691397e-5
allele num: 57420
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.258C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2112G>A
  hgvsp: ENST00000409235.3:c.2112G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*425G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1992G>A
  hgvsp: ENST00000410018.1:c.1992G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1031G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1582G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1031G>A
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6285
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3172
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2185
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val704Val
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

19-38852870-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852870
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852870
    reference: chr 19
allele count: 4
allele frequency: 6.539366989275438e-5
allele num: 61168
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2115C>T
  hgvsp: ENST00000409235.3:c.2115C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1034C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1034C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1585C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.1995C>T
  hgvsp: ENST00000410018.1:c.1995C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.255G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*428C>T
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6106
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26648
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26815
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2304
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2323
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 3.75e1
  variant carriers: 0
hgvs: p.His705His
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

19-38852875-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852875
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852875
    reference: chr 19
allele count: 1
allele frequency: 1.448435689455388e-5
allele num: 69040
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2120C>T
  hgvsp: ENSP00000386962.3:p.Pro707Leu
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.250G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*433C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1039C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.2000C>T
  hgvsp: ENSP00000387057.1:p.Pro667Leu
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1590C>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1039C>T
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5770
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4770
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23529
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2725
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23783
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro707Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

19-38852894-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852894
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852894
    reference: chr 19
allele count: 1
allele frequency: 1.044997596505528e-5
allele num: 95694
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1058G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1058G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.231C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.2019G>A
  hgvsp: ENST00000410018.1:c.2019G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1609G>A
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2139G>A
  hgvsp: ENST00000409235.3:c.2139G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*452G>A
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30402
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1280
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12166
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala713Ala
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/19-38852901-AAAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852901
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852898
    reference: chr 19
allele count: 2
allele frequency: 1.93689593058165e-5
allele num: 103258
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*462_*464delCAA
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.221_223delGTT
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2149_2151delCAA
  hgvsp: ENSP00000386962.3:p.Gln717del
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1068_*1070delCAA
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1619_*1621delCAA
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.2029_2031delCAA
  hgvsp: ENSP00000387057.1:p.Gln677del
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1068_*1070delCAA
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33692
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8759
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln717del
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: AAAC
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-38852902-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852902
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852902
    reference: chr 19
allele count: 1
allele frequency: 9.610025178265967e-6
allele num: 104058
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1617A>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2147A>T
  hgvsp: ENSP00000386962.3:p.Lys716Ile
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1066A>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.2027A>T
  hgvsp: ENSP00000387057.1:p.Lys676Ile
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1066A>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*460A>T
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.223T>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7863
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35344
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8437
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1936
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys716Ile
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

19-38852907-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38852907
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 38852907
    reference: chr 19
allele count: 3
allele frequency: 2.81167407074172e-5
allele num: 106698
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000266963
  ensembl transcript: ENST00000590304
  gene symbol: AC005625.1
  hgvsc: ENST00000590304.1:n.218C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000387057
  ensembl transcript: ENST00000410018
  gene symbol: CATSPERG
  hgvsc: ENST00000410018.1:c.2032G>C
  hgvsp: ENSP00000387057.1:p.Asp678His
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000468028
  ensembl transcript: ENST00000471517
  gene symbol: CATSPERG
  hgvsc: ENST00000471517.1:c.*1622G>C
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000311314
  ensembl transcript: ENST00000312265
  gene symbol: CATSPERG
  hgvsc: ENST00000312265.5:c.*1071G>C
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000215069
  ensembl transcript: ENST00000215069
  gene symbol: CATSPERG
  hgvsc: ENST00000215069.4:c.*465G>C
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000386962
  ensembl transcript: ENST00000409235
  gene symbol: CATSPERG
  hgvsc: ENST00000409235.3:c.2152G>C
  hgvsp: ENSP00000386962.3:p.Asp718His
  variant of: http://identifiers.org/hgnc/25243
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099338
  ensembl protein: ENSP00000395093
  ensembl transcript: ENST00000412458
  gene symbol: CATSPERG
  hgvsc: ENST00000412458.2:c.*1071G>C
  variant of: http://identifiers.org/hgnc/25243
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34695
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3691
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7014
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp718His
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 42102
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4484
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 637
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 151
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1063
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6572
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9430
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10990
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8394
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.571733936879165e-5
allele num: 63624
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5868
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.661e0

VQSLOD
type: SiteQuality
SIO_000300: 7.05e-1

FS
type: SiteQuality
SIO_000300: 1.646e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.324856e6

MQRankSum
type: SiteQuality
SIO_000300: -1.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

GenotypeQuality
all individuals: 839
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1442
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1535
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 294
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10942
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5828
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8370
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63336
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.423432682425488e-5
allele num: 15568
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.495e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.38e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

FS
type: SiteQuality
SIO_000300: 1.4418e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 8.21e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.396e0

VQSLOD
type: SiteQuality
SIO_000300: -2.399e0

DP
type: SiteQuality
SIO_000300: 1.305449e6

GenotypeQuality
all individuals: 133
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3623
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8190
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8806
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.646632636258851e-5
allele num: 60730
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10684
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15434
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.875e1

DP
type: SiteQuality
SIO_000300: 1.229144e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.51e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.962e0

QD
type: SiteQuality
SIO_000300: 3.91e0

MQRankSum
type: SiteQuality
SIO_000300: -1.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e-1

GenotypeQuality
all individuals: 667
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1464
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2414
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 760
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2442
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.218620521569583e-4
allele num: 8206
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10528
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5324
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58436
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.34e0

MQRankSum
type: SiteQuality
SIO_000300: 2.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.52e-1

DP
type: SiteQuality
SIO_000300: 1.207596e6

FS
type: SiteQuality
SIO_000300: 8.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e-1

QD
type: SiteQuality
SIO_000300: 1.193e1

GenotypeQuality
all individuals: 859
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28065
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2432
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2443
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1462
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2966
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 670
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3223
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 6.05766900896535e-4
allele num: 8254
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.505703422053231e-5
allele num: 10520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8070
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5310
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.94e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.4e-2

QD
type: SiteQuality
SIO_000300: 1.014e1

DP
type: SiteQuality
SIO_000300: 1.206243e6

FS
type: SiteQuality
SIO_000300: 1.896e1

VQSLOD
type: SiteQuality
SIO_000300: -2.082e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2682
bin: 3.75e1
variant carriers: 8

GenotypeQuality
all individuals: 2320
bin: 2.75e1
variant carriers: 6

GenotypeQuality
all individuals: 249
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1354
bin: 4.25e1
variant carriers: 12

GenotypeQuality
all individuals: 8273
bin: 2.25e1
variant carriers: 4

GenotypeQuality
all individuals: 3042
bin: 3.25e1
variant carriers: 7

GenotypeQuality
all individuals: 3279
bin: 9.75e1
variant carriers: 3016

GenotypeQuality
all individuals: 674
bin: 7.25e1
variant carriers: 14

GenotypeQuality
all individuals: 122
bin: 8.75e1
variant carriers: 26

GenotypeQuality
all individuals: 1998
bin: 4.75e1
variant carriers: 10

GenotypeQuality
all individuals: 140
bin: 9.25e1
variant carriers: 21

European (Finnish)
type: Population
allele count: 201
allele frequency: 3.769692423105776e-2
allele num: 5332
num of homozygotes: 3

Other
type: Population
allele count: 29
allele frequency: 3.737113402061856e-2
allele num: 776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1955
allele frequency: 3.322343824349126e-2
allele num: 58844
num of homozygotes: 42

East Asian
type: Population
allele count: 1
allele frequency: 1.239464551313832e-4
allele num: 8068
num of homozygotes: 0

African
type: Population
allele count: 138
allele frequency: 1.664656212303981e-2
allele num: 8290
num of homozygotes: 1

South Asian
type: Population
allele count: 766
allele frequency: 4.980494148244474e-2
allele num: 15380
num of homozygotes: 27

Latino
type: Population
allele count: 116
allele frequency: 1.098901098901099e-2
allele num: 10556
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

FS
type: SiteQuality
SIO_000300: 3.189e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-2

QD
type: SiteQuality
SIO_000300: 1.238e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.577e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.7e-2

DP
type: SiteQuality
SIO_000300: 1.257681e6

GenotypeQuality
all individuals: 157
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 744
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2807
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3031
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2042
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3253
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58646
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.487666034155598e-5
allele num: 10540
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8078
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8294
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5296
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15318
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

VQSLOD
type: SiteQuality
SIO_000300: -7.349e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.164e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

DP
type: SiteQuality
SIO_000300: 1.205841e6

QD
type: SiteQuality
SIO_000300: 7.73e0

FS
type: SiteQuality
SIO_000300: 5.825e0

GenotypeQuality
all individuals: 3061
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2165
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3016
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1046
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 24331
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GenotypeQuality
all individuals: 108
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variant carriers: 0

GenotypeQuality
all individuals: 2880
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GenotypeQuality
all individuals: 591
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variant carriers: 0

GenotypeQuality
all individuals: 1649
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2891
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55300
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.564264145989234e-5
allele num: 15234
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4800
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7440
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.836e0

QD
type: SiteQuality
SIO_000300: 1.641e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.18e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.42e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.500000000000001e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.997e0

DP
type: SiteQuality
SIO_000300: 1.190149e6

GenotypeQuality
all individuals: 2892
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3040
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1657
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1235
bin: 5.75e1
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GenotypeQuality
all individuals: 670
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variant carriers: 0

GenotypeQuality
all individuals: 107
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variant carriers: 0

GenotypeQuality
all individuals: 585
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variant carriers: 0

GenotypeQuality
all individuals: 2900
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2611
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7452
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7882
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 710
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.807991321641656e-5
allele num: 55310
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15220
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.76e-1

FS
type: SiteQuality
SIO_000300: 2.453e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

QD
type: SiteQuality
SIO_000300: 9.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

DP
type: SiteQuality
SIO_000300: 1.18896e6

GenotypeQuality
all individuals: 1016
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 599
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variant carriers: 0

GenotypeQuality
all individuals: 7696
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1313
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 688
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variant carriers: 0

GenotypeQuality
all individuals: 127
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variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26814
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4676
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.805966914686123e-5
allele num: 55372
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.699999999999999e-3

DP
type: SiteQuality
SIO_000300: 1.17625e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.55e-1

FS
type: SiteQuality
SIO_000300: 7.205e0

QD
type: SiteQuality
SIO_000300: 1.594e1

GenotypeQuality
all individuals: 835
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32982
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1074
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
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variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 8.75e1
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GenotypeQuality
all individuals: 886
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 709
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 1.214181641573579e-4
allele num: 8236
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58740
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8016
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5188
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10464
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15246
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e0

DP
type: SiteQuality
SIO_000300: 1.221957e6

MQRankSum
type: SiteQuality
SIO_000300: 5.13e-1

FS
type: SiteQuality
SIO_000300: 6.617e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

QD
type: SiteQuality
SIO_000300: 1.652e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e0

GenotypeQuality
all individuals: 1393
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1894
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 835
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3670
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34740
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8252
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8010
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.587727708533077e-5
allele num: 10430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58794
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.230903e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.501e-1

QD
type: SiteQuality
SIO_000300: 9.52e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.234e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

GenotypeQuality
all individuals: 1184
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
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variant carriers: 0

GenotypeQuality
all individuals: 859
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5198
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8020
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.701201047939846e-5
allele num: 58782
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15234
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8248
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.814000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

FS
type: SiteQuality
SIO_000300: 1.744e0

QD
type: SiteQuality
SIO_000300: 7.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.98e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.165e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.235329e6

GenotypeQuality
all individuals: 364
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7994
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8240
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.707825255319876e-5
allele num: 58554
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15210
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.699e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.223e0

MQRankSum
type: SiteQuality
SIO_000300: -1.163e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.61e-1

QD
type: SiteQuality
SIO_000300: 8.19e0

FS
type: SiteQuality
SIO_000300: 7.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.54e-1

DP
type: SiteQuality
SIO_000300: 1.233061e6

GenotypeQuality
all individuals: 1766
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1091
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 917
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.711742553919891e-5
allele num: 58420
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7980
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5148
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8178
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15182
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
SIO_000300: 3.653e0

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.035e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.230217e6

QD
type: SiteQuality
SIO_000300: 1.351e1

GenotypeQuality
all individuals: 57
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 133
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variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1091
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variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7980
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58420
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.222792858889704e-4
allele num: 8178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5148
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.035e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

DP
type: SiteQuality
SIO_000300: 1.230217e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

QD
type: SiteQuality
SIO_000300: 1.351e1

FS
type: SiteQuality
SIO_000300: 3.653e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3385
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 389
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 334
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variant carriers: 0

GenotypeQuality
all individuals: 365
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variant carriers: 1

GenotypeQuality
all individuals: 718
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1144
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 113
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7946
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8154
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15124
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.451251078515962e-5
allele num: 57950
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5050
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.592e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-1

FS
type: SiteQuality
SIO_000300: 3.407e0

DP
type: SiteQuality
SIO_000300: 1.222191e6

QD
type: SiteQuality
SIO_000300: 7.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.2e-1

GenotypeQuality
all individuals: 1091
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 709
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variant carriers: 0

GenotypeQuality
all individuals: 497
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variant carriers: 0

GenotypeQuality
all individuals: 11785
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34010
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 134
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variant carriers: 0

GenotypeQuality
all individuals: 1648
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.329256945367539e-4
allele num: 15046
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57752
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10074
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7944
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4918
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

QD
type: SiteQuality
SIO_000300: 1.01e1

DP
type: SiteQuality
SIO_000300: 1.216781e6

MQRankSum
type: SiteQuality
SIO_000300: 7.93e-1

FS
type: SiteQuality
SIO_000300: 5.498e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

VQSLOD
type: SiteQuality
SIO_000300: 6.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.62e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 803
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1648
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1341
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
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variant carriers: 0

GenotypeQuality
all individuals: 1169
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.970089730807577e-5
allele num: 10030
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8142
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.21557719054242e-5
allele num: 57520
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7932
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4882
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15002
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.7e-1

FS
type: SiteQuality
SIO_000300: 1.532e0

QD
type: SiteQuality
SIO_000300: 9.960000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

DP
type: SiteQuality
SIO_000300: 1.212428e6

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1783
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 113
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GenotypeQuality
all individuals: 1164
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57480
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10026
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.225189904435187e-4
allele num: 8162
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 738
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7930
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14996
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.073e1

VQSLOD
type: SiteQuality
SIO_000300: -1.641e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.213641e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 700
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GenotypeQuality
all individuals: 114
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GenotypeQuality
all individuals: 130
bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 393
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GenotypeQuality
all individuals: 599
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7920
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57180
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14928
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4836
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.002606777621817e-4
allele num: 9974
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8100
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.205988e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.344e0

FS
type: SiteQuality
SIO_000300: 3.565e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.082e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.562e0

QD
type: SiteQuality
SIO_000300: 8.27e0

GenotypeQuality
all individuals: 1288
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3217
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1632
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1211
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1095
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 833
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13231
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.258178158027177e-4
allele num: 7948
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4694
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7858
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56318
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14832
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.806e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.484e0

MQ
type: SiteQuality
SIO_000300: 5.843e1

VQSLOD
type: SiteQuality
SIO_000300: -1.999e0

MQRankSum
type: SiteQuality
SIO_000300: 4.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.41e-1

DP
type: SiteQuality
SIO_000300: 1.190473e6

GenotypeQuality
all individuals: 859
bin: 3.75e1
variant carriers: 49

GenotypeQuality
all individuals: 354
bin: 1.75e1
variant carriers: 24

GenotypeQuality
all individuals: 600
bin: 4.75e1
variant carriers: 60

GenotypeQuality
all individuals: 27195
bin: 6.25e1
variant carriers: 82

GenotypeQuality
all individuals: 465
bin: 7.75e1
variant carriers: 80

GenotypeQuality
all individuals: 1451
bin: 2.75e1
variant carriers: 30

GenotypeQuality
all individuals: 1336
bin: 3.25e1
variant carriers: 33

GenotypeQuality
all individuals: 379
bin: 4.25e1
variant carriers: 43

GenotypeQuality
all individuals: 531
bin: 7.25e1
variant carriers: 51

GenotypeQuality
all individuals: 14028
bin: 2.25e1
variant carriers: 26

GenotypeQuality
all individuals: 523
bin: 5.75e1
variant carriers: 52

Other
type: Population
allele count: 75
allele frequency: 1.056338028169014e-1
allele num: 710
num of homozygotes: 3

East Asian
type: Population
allele count: 2321
allele frequency: 2.986361296963458e-1
allele num: 7772
num of homozygotes: 319

African
type: Population
allele count: 90
allele frequency: 1.162790697674419e-2
allele num: 7740
num of homozygotes: 0

Latino
type: Population
allele count: 1526
allele frequency: 1.600251677852349e-1
allele num: 9536
num of homozygotes: 99

European (Finnish)
type: Population
allele count: 303
allele frequency: 6.662269129287599e-2
allele num: 4548
num of homozygotes: 7

European (Non-Finnish)
type: Population
allele count: 2614
allele frequency: 4.754110286628838e-2
allele num: 54984
num of homozygotes: 58

South Asian
type: Population
allele count: 2085
allele frequency: 1.412793061390432e-1
allele num: 14758
num of homozygotes: 156

QD
type: SiteQuality
SIO_000300: 1.405e1

FS
type: SiteQuality
SIO_000300: 5.679999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.284413e6

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.603e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.84e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.97e0

GenotypeQuality
all individuals: 83
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30456
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1568
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 532
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variant carriers: 0

GenotypeQuality
all individuals: 2870
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variant carriers: 0

GenotypeQuality
all individuals: 247
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variant carriers: 0

GenotypeQuality
all individuals: 1717
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53678
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8864
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.632271650434325e-4
allele num: 7598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4352
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 692
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7094
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14224
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.46e-1

FS
type: SiteQuality
SIO_000300: 3.305e0

DP
type: SiteQuality
SIO_000300: 1.131319e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

QD
type: SiteQuality
SIO_000300: 7.61e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.35e-1

GenotypeQuality
all individuals: 337
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1627
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 956
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variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
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variant carriers: 1

GenotypeQuality
all individuals: 547
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GenotypeQuality
all individuals: 29220
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variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4238
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8706
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.892362425251684e-5
allele num: 52844
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14112
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 688
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6986
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.509e0

FS
type: SiteQuality
SIO_000300: 3.135e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

DP
type: SiteQuality
SIO_000300: 1.10905e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

QD
type: SiteQuality
SIO_000300: 1.324e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.12e-1

GenotypeQuality
all individuals: 282
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 83
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
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variant carriers: 0

GenotypeQuality
all individuals: 2584
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variant carriers: 0

GenotypeQuality
all individuals: 1457
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variant carriers: 0

GenotypeQuality
all individuals: 31976
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variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
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variant carriers: 0

GenotypeQuality
all individuals: 10585
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.186184005808526e-5
allele num: 38564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12294
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5932
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2770
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5228
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.2e0

VQSLOD
type: SiteQuality
SIO_000300: -2.455e0

DP
type: SiteQuality
SIO_000300: 7.8586e5

BaseQRankSum
type: SiteQuality
SIO_000300: -6.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.32e-2

MQ
type: SiteQuality
SIO_000300: 5.896e1

GenotypeQuality
all individuals: 1003
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3421
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 280
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variant carriers: 0

GenotypeQuality
all individuals: 1450
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
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variant carriers: 0

GenotypeQuality
all individuals: 285
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variant carriers: 0

GenotypeQuality
all individuals: 845
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variant carriers: 0

GenotypeQuality
all individuals: 132
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variant carriers: 0

GenotypeQuality
all individuals: 72
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variant carriers: 1

GenotypeQuality
all individuals: 244
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variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5278
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12160
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2684
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5124
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37802
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5784
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.3e0

VQSLOD
type: SiteQuality
SIO_000300: -2.708e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.38e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.119999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 1.75e0

DP
type: SiteQuality
SIO_000300: 7.67928e5

MQ
type: SiteQuality
SIO_000300: 5.728e1

FS
type: SiteQuality
SIO_000300: 8.451000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

GenotypeQuality
all individuals: 293
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
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variant carriers: 0

GenotypeQuality
all individuals: 283
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GenotypeQuality
all individuals: 29770
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variant carriers: 0

GenotypeQuality
all individuals: 8090
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GenotypeQuality
all individuals: 172
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GenotypeQuality
all individuals: 290
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GenotypeQuality
all individuals: 2916
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 281
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variant carriers: 1

GenotypeQuality
all individuals: 282
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variant carriers: 0

GenotypeQuality
all individuals: 83
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variant carriers: 0

GenotypeQuality
all individuals: 1109
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11416
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4434
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4582
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2004
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4696
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.085848299697587e-5
allele num: 32406
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.73e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.38e-1

DP
type: SiteQuality
SIO_000300: 6.91574e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.89e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.148e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.22e-1

GenotypeQuality
all individuals: 80
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
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variant carriers: 0

GenotypeQuality
all individuals: 69
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GenotypeQuality
all individuals: 174
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GenotypeQuality
all individuals: 5214
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 266
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GenotypeQuality
all individuals: 2596
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variant carriers: 0

GenotypeQuality
all individuals: 276
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variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3916
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4084
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3928
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.233610341643582e-5
allele num: 10830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28738
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 384
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.27e-2

FS
type: SiteQuality
SIO_000300: 4.15e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.208e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

DP
type: SiteQuality
SIO_000300: 6.50064e5

GenotypeQuality
all individuals: 272
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3014
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 267
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variant carriers: 0

GenotypeQuality
all individuals: 67
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variant carriers: 0

GenotypeQuality
all individuals: 5466
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
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variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2493
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 932
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4058
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3934
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.399286363954383e-4
allele num: 28586
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.776749352091818e-4
allele num: 10804
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3898
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.07e-2

DP
type: SiteQuality
SIO_000300: 6.47148e5

QD
type: SiteQuality
SIO_000300: 1.108e1

FS
type: SiteQuality
SIO_000300: 1.061e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.37e-1

MQ
type: SiteQuality
SIO_000300: 5.726e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.76e-1

GenotypeQuality
all individuals: 808
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 265
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variant carriers: 0

GenotypeQuality
all individuals: 2263
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variant carriers: 0

GenotypeQuality
all individuals: 906
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variant carriers: 0

GenotypeQuality
all individuals: 3004
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 243
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1440
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 27022
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 360
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3846
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 10550
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.235e1

MQ
type: SiteQuality
SIO_000300: 5.739e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.38e-2

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 6.26778e5

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1342
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3724
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 3.84201629014907e-5
allele num: 26028
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.47e-2

ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
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MQRankSum
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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DP
type: SiteQuality
SIO_000300: 6.15293e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

GenotypeQuality
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variant carriers: 1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 3.999040230344717e-5
allele num: 25006
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3162
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 340
num of homozygotes: 0

African
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allele frequency: 5.527915975677169e-4
allele num: 3618
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3366
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1268
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.65e-2

MQRankSum
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QD
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 4.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e0

DP
type: SiteQuality
SIO_000300: 6.04763e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-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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bin: 8.75e1
variant carriers: 1

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1188
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3166
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 326
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 24066
num of homozygotes: 0

African
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allele frequency: 1.142857142857143e-3
allele num: 3500
num of homozygotes: 1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-2

VQSLOD
type: SiteQuality
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BaseQRankSum
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SIO_000300: -3.22e-1

QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.64e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.117e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-1

DP
type: SiteQuality
SIO_000300: 5.90581e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 32

East Asian
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allele count: 24
allele frequency: 8.097165991902834e-3
allele num: 2964
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3318
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 3.07530094016343e-4
allele num: 22762
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.027245206861756e-4
allele num: 9910
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 3.623188405797101e-4
allele num: 2760
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1088
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

QD
type: SiteQuality
SIO_000300: 1.18e1

FS
type: SiteQuality
SIO_000300: 4.779e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.76e-2

DP
type: SiteQuality
SIO_000300: 5.74194e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 6.277463904582549e-4
allele num: 3186
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9752
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1002
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 21678
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 300
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2504
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East Asian
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allele count: 1
allele frequency: 3.652300949598247e-4
allele num: 2738
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.66e-1

FS
type: SiteQuality
SIO_000300: 2.986e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.88e-1

DP
type: SiteQuality
SIO_000300: 5.60515e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.98e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.03e-1

QD
type: SiteQuality
SIO_000300: 1.506e1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 21450
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9680
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 986
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3152
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Latino
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 1
allele frequency: 3.668378576669112e-4
allele num: 2726
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MQRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

VQSLOD
type: SiteQuality
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FS
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InbreedingCoeff
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BaseQRankSum
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QD
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SIO_000300: 8.18e0

DP
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SIO_000300: 5.58526e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 5.242189138184106e-5
allele num: 19076
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 812
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 18748
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 1966
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Other
type: Population
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allele frequency: 0.0e0
allele num: 266
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MQRankSum
type: SiteQuality
SIO_000300: -1.48e0

MQ
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DP
type: SiteQuality
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ClippingRankSum
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QD
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BaseQRankSum
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.73e-1

InbreedingCoeff
type: SiteQuality
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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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variant carriers: 0

African
type: Population
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allele frequency: 3.866976024748647e-4
allele num: 2586
num of homozygotes: 0

Latino
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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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European (Finnish)
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allele frequency: 0.0e0
allele num: 676
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South Asian
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Other
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allele num: 260
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East Asian
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allele frequency: 0.0e0
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FS
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QD
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InbreedingCoeff
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MQ
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MQRankSum
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BaseQRankSum
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VQSLOD
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2442
bin: 3.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8942
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1922
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.62e-2

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.29e-1

QD
type: SiteQuality
SIO_000300: 1.184e1

DP
type: SiteQuality
SIO_000300: 4.95294e5

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2364
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10206
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.093135111499781e-4
allele num: 9148
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.64e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.382e0

VQSLOD
type: SiteQuality
SIO_000300: -1.284e0

MQ
type: SiteQuality
SIO_000300: 5.92e1

MQRankSum
type: SiteQuality
SIO_000300: -2.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.549e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

DP
type: SiteQuality
SIO_000300: 4.64684e5

QD
type: SiteQuality
SIO_000300: 1.258e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9154
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.784735812133073e-5
allele num: 10220
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.911e1

MQRankSum
type: SiteQuality
SIO_000300: 1.48e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.114e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.59e-2

QD
type: SiteQuality
SIO_000300: 7.15e0

DP
type: SiteQuality
SIO_000300: 4.64989e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.17e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 5.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2348
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.03e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.36e-1

MQ
type: SiteQuality
SIO_000300: 6.178e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

FS
type: SiteQuality
SIO_000300: 2.681e0

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.56e-1

DP
type: SiteQuality
SIO_000300: 4.68799e5

QD
type: SiteQuality
SIO_000300: 8.699999999999999e0

GenotypeQuality
all individuals: 403
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6820
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 535
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.091464745688714e-4
allele num: 9162
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

VQSLOD
type: SiteQuality
SIO_000300: 6.36e-1

QD
type: SiteQuality
SIO_000300: 8.699999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

MQ
type: SiteQuality
SIO_000300: 6.178e1

FS
type: SiteQuality
SIO_000300: 2.681e0

DP
type: SiteQuality
SIO_000300: 4.68799e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.03e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.56e-1

GenotypeQuality
all individuals: 680
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
all individuals: 235
bin: 8.75e1
variant carriers: 2

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 46

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 6

GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 1302
bin: 3.25e1
variant carriers: 4

GenotypeQuality
all individuals: 377
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 652
num of homozygotes: 0

African
type: Population
allele count: 47
allele frequency: 1.991525423728813e-2
allele num: 2360
num of homozygotes: 3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9150
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.72963e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.003e0

VQSLOD
type: SiteQuality
SIO_000300: 3.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-2

QD
type: SiteQuality
SIO_000300: 1.376e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 221
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2344
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 674
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.775171065493646e-5
allele num: 10230
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.75822e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.540999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.47e-2

QD
type: SiteQuality
SIO_000300: 1.381e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2386
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10420
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 5.421817393190197e-4
allele num: 9222
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.210000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.52e0

FS
type: SiteQuality
SIO_000300: 7.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.196e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.90212e5

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 237
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.596928982725528e-5
allele num: 10420
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2386
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9222
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.196e0

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.94e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.83e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.90212e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-2

QD
type: SiteQuality
SIO_000300: 8.210000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 5.71e-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
all individuals: 243
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GenotypeQuality
all individuals: 916
bin: 9.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9302
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 706
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2450
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10918
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.069e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.93e-2

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.42e-1

DP
type: SiteQuality
SIO_000300: 5.14189e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

GenotypeQuality
all individuals: 128
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1357
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 917
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9372
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.038772213247173e-4
allele num: 2476
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 232
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11086
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.2269e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.82e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.45e0

FS
type: SiteQuality
SIO_000300: 2.806e0

VQSLOD
type: SiteQuality
SIO_000300: -1.477e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.48e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.18e0

QD
type: SiteQuality
SIO_000300: 1.193e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.9e-1

GenotypeQuality
all individuals: 19834
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1577
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1366
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 738
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 3.197612449371136e-4
allele num: 9382
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11200
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.75e-2

QD
type: SiteQuality
SIO_000300: 1.259e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e0

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

MQ
type: SiteQuality
SIO_000300: 5.921e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.25494e5

VQSLOD
type: SiteQuality
SIO_000300: -4.653e-1

GenotypeQuality
all individuals: 918
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1597
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9412
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11330
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2490
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.017e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

QD
type: SiteQuality
SIO_000300: 6.57e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.68e-2

MQ
type: SiteQuality
SIO_000300: 5.572e1

VQSLOD
type: SiteQuality
SIO_000300: -1.517e0

DP
type: SiteQuality
SIO_000300: 5.31551e5

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.22e-1

GenotypeQuality
all individuals: 1268
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21008
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3150
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 920
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 467
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

East Asian
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: 2526
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.059322033898305e-4
allele num: 9440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.59e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.56e-1

QD
type: SiteQuality
SIO_000300: 1.257e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.08e-1

DP
type: SiteQuality
SIO_000300: 5.36684e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.03e-2

GenotypeQuality
all individuals: 541
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3150
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1623
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21008
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1268
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 920
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 245
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 2.11864406779661e-4
allele num: 9440
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.59e-1

FS
type: SiteQuality
SIO_000300: 5.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.84e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.03e-2

DP
type: SiteQuality
SIO_000300: 5.36684e5

QD
type: SiteQuality
SIO_000300: 1.257e1

GenotypeQuality
all individuals: 17651
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 552
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variant carriers: 0

GenotypeQuality
all individuals: 1662
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1279
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
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variant carriers: 0

GenotypeQuality
all individuals: 2694
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3981
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11770
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9524
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.126126126126126e-3
allele num: 888
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 312
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.45e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.991e0

QD
type: SiteQuality
SIO_000300: 6.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.36e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.148e0

DP
type: SiteQuality
SIO_000300: 5.4986e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.15e0

MQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

GenotypeQuality
all individuals: 160
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25930
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2466
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1679
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1945
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variant carriers: 0

GenotypeQuality
all individuals: 477
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variant carriers: 0

GenotypeQuality
all individuals: 246
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variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13236
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2736
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 964
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 460
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1102
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.41e0

MQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.288e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.564e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.52e-2

DP
type: SiteQuality
SIO_000300: 5.8423e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.76e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 9.074410163339383e-4
allele num: 1102
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 964
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13236
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2736
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

QD
type: SiteQuality
SIO_000300: 1.288e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.52e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.41e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.564e0

DP
type: SiteQuality
SIO_000300: 5.8423e5

GenotypeQuality
all individuals: 1474
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 733
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 250
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2200
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1678
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.698655117392296e-5
allele num: 17548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3376
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.83e-1

FS
type: SiteQuality
SIO_000300: 2.458e0

DP
type: SiteQuality
SIO_000300: 6.6596e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.67e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.06e-1

QD
type: SiteQuality
SIO_000300: 1.21e1

GenotypeQuality
all individuals: 733
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
all individuals: 327
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GenotypeQuality
all individuals: 1567
bin: 1.75e1
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GenotypeQuality
all individuals: 31278
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 2045
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 3.184713375796179e-3
allele num: 314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.698655117392296e-5
allele num: 17548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10516
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1678
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3376
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.21e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.67e-2

FS
type: SiteQuality
SIO_000300: 2.458e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 6.6596e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.06e-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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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 995
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1014
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10800
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1914
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.906976744186046e-3
allele num: 344
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3576
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.09051254089422e-3
allele num: 1834
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 2.592016588906169e-4
allele num: 19290
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.074e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-2

DP
type: SiteQuality
SIO_000300: 6.91811e5

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

FS
type: SiteQuality
SIO_000300: 6.436e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.67e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

QD
type: SiteQuality
SIO_000300: 9.359999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

South Asian
type: Population
allele count: 1
allele frequency: 9.179364787956673e-5
allele num: 10894
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3662
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19992
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1066
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1950
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1960
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 360
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.144e1

MQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.64e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.81e0

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.66e0

DP
type: SiteQuality
SIO_000300: 7.03667e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.486e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 2269
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 423
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11298
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2380
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.492522432701894e-4
allele num: 4012
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2304
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1380
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.33e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.35e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.39e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.353e0

VQSLOD
type: SiteQuality
SIO_000300: -3.677e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.33e-1

QD
type: SiteQuality
SIO_000300: 7.44e0

DP
type: SiteQuality
SIO_000300: 7.42544e5

GenotypeQuality
all individuals: 320
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 861
bin: 1.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25736
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1708
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2684
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3010
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4402
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.14e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.16e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.35e0

VQSLOD
type: SiteQuality
SIO_000300: -5.467e-1

DP
type: SiteQuality
SIO_000300: 7.83383e5

GenotypeQuality
all individuals: 2024
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 923
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variant carriers: 1

GenotypeQuality
all individuals: 752
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28102
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2986
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.35282325425994e-5
allele num: 11972
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1936
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

FS
type: SiteQuality
SIO_000300: 9.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.07e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.07e-1

DP
type: SiteQuality
SIO_000300: 8.16406e5

QD
type: SiteQuality
SIO_000300: 1.309e1

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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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3284
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 494
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3884
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 8.160600620205648e-5
allele num: 12254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30436
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 5.7e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.299999999999999e-3

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

DP
type: SiteQuality
SIO_000300: 8.45438e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.186e0

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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variant carriers: 0

African
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allele count: 1
allele frequency: 1.944768572539868e-4
allele num: 5142
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4384
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 9.207537904364372e-5
allele num: 32582
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12504
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 506
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2434
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.36e0

MQRankSum
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.699999999999999e-3

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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variant carriers: 1

Latino
type: Population
allele count: 1
allele frequency: 1.845018450184502e-4
allele num: 5420
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2910
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
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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
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 37236
num of homozygotes: 0

East Asian
type: Population
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num of homozygotes: 0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.88e-1

FS
type: SiteQuality
SIO_000300: 2.809e0

ClippingRankSum
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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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7526
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9130
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.915782213877926e-5
allele num: 52198
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4638
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14868
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6622
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 1.195449e6

MQRankSum
type: SiteQuality
SIO_000300: 8.48e-1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 6.94e-1

GenotypeQuality
all individuals: 902
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1731
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34590
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1918
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 985
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 568
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1196
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5102
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10110
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7338
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8100
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.550001775000888e-5
allele num: 56338
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15392
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5210
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.705e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.199e1

DP
type: SiteQuality
SIO_000300: 1.267631e6

VQSLOD
type: SiteQuality
SIO_000300: 4.34e0

MQRankSum
type: SiteQuality
SIO_000300: -1.043e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.08e-1

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

GenotypeQuality
all individuals: 716
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 863
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1201
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1750
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5172
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 984
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56804
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.898253606681853e-4
allele num: 5268
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15454
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8146
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7416
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.476e-1

QD
type: SiteQuality
SIO_000300: 1.399e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.813e0

MQRankSum
type: SiteQuality
SIO_000300: -1.328e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.27567e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.018e0

GenotypeQuality
all individuals: 755
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5391
bin: 6.75e1
variant carriers: 0