12-53567558-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53567558
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53567558
    reference: chr 12
allele count: 1
allele frequency: 8.845017601585028e-6
allele num: 113058
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.31-7T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000390269
  ensembl transcript: ENST00000424845
  gene symbol: CSAD
  hgvsc: ENST00000424845.1:c.-53T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-46-7T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-49-4T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-49-4T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-6-298T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-29-275T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139631
  ensembl transcript: ENST00000461392
  gene symbol: CSAD
  hgvsc: ENST00000461392.1:n.171T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-49-4T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.33-4T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000457264
  ensembl transcript: ENST00000498635
  gene symbol: CSAD
  hgvsc: ENST00000498635.1:c.-53T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-49-4T>C
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3842
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.33-4T>C
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

12-53567564-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53567564
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53567564
    reference: chr 12
allele count: 4
allele frequency: 3.545784948142895e-5
allele num: 112810
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.33-10C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-6-304C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000390269
  ensembl transcript: ENST00000424845
  gene symbol: CSAD
  hgvsc: ENST00000424845.1:c.-59C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-49-10C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-46-13C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-49-10C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139631
  ensembl transcript: ENST00000461392
  gene symbol: CSAD
  hgvsc: ENST00000461392.1:n.165C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000457264
  ensembl transcript: ENST00000498635
  gene symbol: CSAD
  hgvsc: ENST00000498635.1:c.-59C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-49-10C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.31-13C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-49-10C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-29-281C>T
  variant of: http://identifiers.org/hgnc/18966
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8429
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD

12-53567569-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53567569
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53567569
    reference: chr 12
allele count: 4
allele frequency: 3.555808413042705e-5
allele num: 112492
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.33-15T>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-29-286T>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-49-15T>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000457264
  ensembl transcript: ENST00000498635
  gene symbol: CSAD
  hgvsc: ENST00000498635.1:c.-64T>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-49-15T>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.31-18T>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-49-15T>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000390269
  ensembl transcript: ENST00000424845
  gene symbol: CSAD
  hgvsc: ENST00000424845.1:c.-64T>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-6-309T>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-49-15T>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-46-18T>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139631
  ensembl transcript: ENST00000461392
  gene symbol: CSAD
  hgvsc: ENST00000461392.1:n.160T>A
  variant of: http://identifiers.org/hgnc/18966
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10003
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11068
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

12-53567576-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53567576
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53567576
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 111786
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-46-25A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-49-22A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000457264
  ensembl transcript: ENST00000498635
  gene symbol: CSAD
  hgvsc: ENST00000498635.1:c.-71A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-6-316A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139631
  ensembl transcript: ENST00000461392
  gene symbol: CSAD
  hgvsc: ENST00000461392.1:n.153A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.31-25A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-29-293A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-49-22A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-49-22A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-49-22A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.33-22A>G
  variant of: http://identifiers.org/hgnc/18966
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4360
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13590
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

12-53567577-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53567577
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53567577
    reference: chr 12
allele count: 1
allele frequency: 8.967805577975069e-6
allele num: 111510
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-46-26C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000457264
  ensembl transcript: ENST00000498635
  gene symbol: CSAD
  hgvsc: ENST00000498635.1:c.-72C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-6-317C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139631
  ensembl transcript: ENST00000461392
  gene symbol: CSAD
  hgvsc: ENST00000461392.1:n.152C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.31-26C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-49-23C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-49-23C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.33-23C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-29-294C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-49-23C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-49-23C>T
  variant of: http://identifiers.org/hgnc/18966
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4179
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14803
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

12-53567581-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53567581
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53567581
    reference: chr 12
allele count: 1
allele frequency: 9.010145423747139e-6
allele num: 110986
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139631
  ensembl transcript: ENST00000461392
  gene symbol: CSAD
  hgvsc: ENST00000461392.1:n.148C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-46-30C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000457264
  ensembl transcript: ENST00000498635
  gene symbol: CSAD
  hgvsc: ENST00000498635.1:c.-76C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-29-298C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-49-27C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.33-27C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-49-27C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.31-30C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-49-27C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-49-27C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-6-321C>T
  variant of: http://identifiers.org/hgnc/18966
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11193
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6162
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16884
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4508
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

12-53567582-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53567582
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53567581
    reference: chr 12
allele count: 1
allele frequency: 9.00657479960371e-6
allele num: 111030
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-49-29delC
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.31-32delC
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-6-323delC
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-29-300delC
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-46-32delC
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000457264
  ensembl transcript: ENST00000498635
  gene symbol: CSAD
  hgvsc: ENST00000498635.1:c.-78delC
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.33-29delC
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139631
  ensembl transcript: ENST00000461392
  gene symbol: CSAD
  hgvsc: ENST00000461392.1:n.146delC
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-49-29delC
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-49-29delC
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-49-29delC
  variant of: http://identifiers.org/hgnc/18966
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16912
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8926
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: AG
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD

12-53567584-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53567584
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53567584
    reference: chr 12
allele count: 3
allele frequency: 2.727867898450571e-5
allele num: 109976
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.33-30C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-49-30C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-49-30C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-49-30C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-6-324C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.31-33C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-29-301C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000457264
  ensembl transcript: ENST00000498635
  gene symbol: CSAD
  hgvsc: ENST00000498635.1:c.-79C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139631
  ensembl transcript: ENST00000461392
  gene symbol: CSAD
  hgvsc: ENST00000461392.1:n.145C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-49-30C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-46-33C>T
  variant of: http://identifiers.org/hgnc/18966
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18415
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9757
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7551
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum

12-53567584-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53567584
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53567584
    reference: chr 12
allele count: 1
allele frequency: 9.092892994835237e-6
allele num: 109976
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-46-33C>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.33-30C>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-49-30C>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-6-324C>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000457264
  ensembl transcript: ENST00000498635
  gene symbol: CSAD
  hgvsc: ENST00000498635.1:c.-79C>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139631
  ensembl transcript: ENST00000461392
  gene symbol: CSAD
  hgvsc: ENST00000461392.1:n.145C>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-49-30C>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-49-30C>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.31-33C>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-29-301C>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-49-30C>G
  variant of: http://identifiers.org/hgnc/18966
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9757
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18415
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

12-53567601-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53567601
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53567601
    reference: chr 12
allele count: 1
allele frequency: 1.017915309446254e-5
allele num: 98240
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-49-47C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-46-50C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139631
  ensembl transcript: ENST00000461392
  gene symbol: CSAD
  hgvsc: ENST00000461392.1:n.128C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-49-47C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.33-47C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-6-341C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.31-50C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000457264
  ensembl transcript: ENST00000498635
  gene symbol: CSAD
  hgvsc: ENST00000498635.1:c.-96C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-49-47C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-29-318C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-49-47C>T
  variant of: http://identifiers.org/hgnc/18966
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13830
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16990
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8090
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8226
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/12-53567604-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53567604
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53567604
    reference: chr 12
allele count: 1
allele frequency: 1.02671512762069e-5
allele num: 97398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-49-50G>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-49-50G>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000457264
  ensembl transcript: ENST00000498635
  gene symbol: CSAD
  hgvsc: ENST00000498635.1:c.-99G>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-49-50G>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-29-321G>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.33-50G>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139631
  ensembl transcript: ENST00000461392
  gene symbol: CSAD
  hgvsc: ENST00000461392.1:n.125G>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.31-53G>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-49-50G>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-46-53G>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-6-344G>T
  variant of: http://identifiers.org/hgnc/18966
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13690
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6816
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6074
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

12-53571651-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53571651
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53571651
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 6
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-50+1754A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+2700A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.32+1910A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+2734A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+3359A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-50+1910A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-30+1231A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-50+1235A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-7+1906A>G
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

12-53571688-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53571688
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53571688
    reference: chr 12
allele count: 1
allele frequency: 5.0e-1
allele num: 2
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+3322A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-7+1869A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-50+1198A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+2697A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.32+1873A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-50+1717A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-30+1194A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+2663A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-50+1873A>G
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3886
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

12-53571703-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53571703
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53571703
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 2
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+2648G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-50+1858G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-50+1702G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+2682G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+3307G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.32+1858G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-30+1179G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-7+1854G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-50+1183G>A
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

12-53571738-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53571738
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53571739
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 2
alternate allele: TA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.32+1822dupT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+2612dupT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-7+1818dupT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-50+1666dupT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-50+1147dupT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-30+1143dupT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+2646dupT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+3271dupT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-50+1822dupT
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

12-53571738-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53571738
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53571737
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 2
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-50+1822delT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+2646delT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+2612delT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+3271delT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-30+1143delT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.32+1822delT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-50+1147delT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-50+1666delT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-7+1818delT
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 2.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: TA
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

12-53571738-TAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53571738
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53571736
    reference: chr 12
allele count: 1
allele frequency: 5.0e-1
allele num: 2
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+3270_-50+3271delTT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-50+1665_-50+1666delTT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.32+1821_32+1822delTT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+2611_30+2612delTT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-50+1146_-50+1147delTT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+2645_-47+2646delTT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-30+1142_-30+1143delTT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-7+1817_-7+1818delTT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-50+1821_-50+1822delTT
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: TAA
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-53572100-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53572100
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53572101
    reference: chr 12
allele count: 1
allele frequency: 9.527439024390244e-5
allele num: 10496
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-30+781dupT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+2909dupT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-50+1304dupT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+2250dupT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-50+785dupT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-50+1460dupT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+2284dupT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.32+1460dupT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-7+1456dupT
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-53572108-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53572108
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53572108
    reference: chr 12
allele count: 11
allele frequency: 1.776485788113695e-3
allele num: 6192
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+2243G>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-50+778G>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+2902G>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-50+1297G>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-7+1449G>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-50+1453G>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.32+1453G>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-30+774G>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+2277G>T
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1692
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/12-53572108-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53572108
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53572109
    reference: chr 12
allele count: 1654
allele frequency: 2.671188630490956e-1
allele num: 6192
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-7+1448dupT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-50+1452dupT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-50+777dupT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-30+773dupT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-50+1296dupT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+2901dupT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.32+1452dupT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+2242dupT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+2276dupT
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 2.75e1
  variant carriers: 168
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.75e1
  variant carriers: 154
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 2.25e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.25e1
  variant carriers: 375
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 4.75e1
  variant carriers: 330
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 3.75e1
  variant carriers: 384
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 3.25e1
  variant carriers: 296
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.25e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 5.25e1
  variant carriers: 203
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.75e1
  variant carriers: 87
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 1.75e1
  variant carriers: 131
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 4.75e1
  variant carriers: 96
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 1.25e1
  variant carriers: 141
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 4.25e1
  variant carriers: 111
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 6.25e1
  variant carriers: 82
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/12-53572108-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53572108
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53572107
    reference: chr 12
allele count: 37
allele frequency: 5.975452196382429e-3
allele num: 6192
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-7+1448delT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+2901delT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-50+777delT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.32+1452delT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+2276delT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-30+773delT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+2242delT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-50+1452delT
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-50+1296delT
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 3.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 4.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1692
  bin: 2.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: CA
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-53572116-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53572116
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53572116
    reference: chr 12
allele count: 1
allele frequency: 9.317927692881103e-5
allele num: 10732
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-30+766T>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+2235T>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-50+1445T>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-50+770T>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+2269T>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-7+1441T>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-50+1289T>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+2894T>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.32+1445T>G
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

12-53572118-ACTAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53572118
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53572114
    reference: chr 12
allele count: 2
allele frequency: 1.862891207153502e-4
allele num: 10736
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.32+1439_32+1442delGTAG
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+2888_-50+2891delGTAG
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-7+1435_-7+1438delGTAG
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-50+1439_-50+1442delGTAG
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+2263_-47+2266delGTAG
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-50+764_-50+767delGTAG
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-30+760_-30+763delGTAG
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+2229_30+2232delGTAG
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-50+1283_-50+1286delGTAG
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  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: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: ACTAC
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

12-53572124-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53572124
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53572124
    reference: chr 12
allele count: 1
allele frequency: 9.305788200260562e-5
allele num: 10746
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-50+762T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-30+758T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+2227T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-50+1437T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.32+1437T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+2261T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+2886T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-7+1433T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-50+1281T>C
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum

12-53572130-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53572130
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53572130
    reference: chr 12
allele count: 583
allele frequency: 5.421238608889715e-2
allele num: 10754
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+2255A>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.32+1431A>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-50+756A>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-7+1427A>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+2221A>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-30+752A>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+2880A>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-50+1431A>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-50+1275A>C
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 2.5e0
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 3.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 3.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 4.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 2
num of homozygotes: 18
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

12-53572166-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53572166
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53572166
    reference: chr 12
allele count: 1
allele frequency: 9.304056568663938e-5
allele num: 10748
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-50+720G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+2844G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.32+1395G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-50+1395G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+2185G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-7+1391G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-30+716G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+2219G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-50+1239G>A
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1748
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 7.25e1
  variant carriers: 0
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: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

12-53572173-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53572173
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53572173
    reference: chr 12
allele count: 1
allele frequency: 9.305788200260562e-5
allele num: 10746
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.32+1388C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-50+713C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-7+1384C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-50+1232C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+2212C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-50+1388C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+2837C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+2178C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-30+709C>T
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

12-53572185-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53572185
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53572185
    reference: chr 12
allele count: 2
allele frequency: 1.86150409530901e-4
allele num: 10744
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+2825T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-50+701T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-30+697T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-50+1220T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-7+1372T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.32+1376T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+2200T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+2166T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-50+1376T>C
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

12-53572199-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53572199
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53572199
    reference: chr 12
allele count: 1
allele frequency: 9.324878776575905e-5
allele num: 10724
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+2811G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-50+1206G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-50+687G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+2186G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-7+1358G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-50+1362G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.32+1362G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+2152G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-30+683G>A
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-53573515-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53573515
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53573515
    reference: chr 12
allele count: 4
allele frequency: 3.347000251025019e-5
allele num: 119510
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-7+42C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.32+46C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-90-589C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+1495C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-50+46C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+870C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+836C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-74-589C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-95-65C>T
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35831
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS

12-53573517-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53573517
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53573517
    reference: chr 12
allele count: 2
allele frequency: 1.667528222915173e-5
allele num: 119938
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-74-591A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-7+40A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-90-591A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+1493A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.32+44A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-50+44A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+868A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+834A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-95-67A>G
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35825
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

12-53573525-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53573525
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53573525
    reference: chr 12
allele count: 1
allele frequency: 8.334305668994715e-6
allele num: 119986
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-50+36A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-95-75A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-90-599A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-74-599A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-7+32A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.32+36A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+826A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+1485A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+860A>G
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35825
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

12-53573526-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53573526
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53573526
    reference: chr 12
allele count: 3
allele frequency: 2.500083336111204e-5
allele num: 119996
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-90-600A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+859A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-95-76A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-50+35A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.32+35A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-7+31A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+825A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+1484A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-74-600A>G
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35826
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

12-53573539-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53573539
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53573539
    reference: chr 12
allele count: 1
allele frequency: 8.327504080476999e-6
allele num: 120084
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+846C>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.32+22C>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-95-89C>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-90-613C>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-50+22C>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-74-613C>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-7+18C>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+812C>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+1471C>G
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35825
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

12-53573543-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53573543
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53573543
    reference: chr 12
allele count: 1
allele frequency: 8.326117364950376e-6
allele num: 120104
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-74-617G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+842G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.32+18G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+1467G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-7+14G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-95-93G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-90-617G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+808G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-50+18G>A
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35826
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

12-53573544-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53573544
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53573544
    reference: chr 12
allele count: 1
allele frequency: 8.32514693884347e-6
allele num: 120118
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-74-618C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-95-94C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+807C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.32+17C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-90-618C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+1466C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-7+13C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+841C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-50+17C>T
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35828
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2786
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55877
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

12-53573544-GACATAATATCACCT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53573544
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53573530
    reference: chr 12
allele count: 3
allele frequency: 2.497544081653041e-5
allele num: 120118
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: 5_prime_UTR_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  variant of: http://identifiers.org/hgnc/18966
canonical: false
consequence: splice donor
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35828
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2786
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1316
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
hgvs: c.-8_-7+12delAGGTGATATTATGT
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: GACATAATATCACCT
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

12-53573554-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53573554
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53573554
    reference: chr 12
allele count: 2
allele frequency: 1.664391997603276e-5
allele num: 120164
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+831G>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.32+7G>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-90-628G>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+797G>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-74-628G>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-95-104G>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-7+3G>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+1456G>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-50+7G>C
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35828
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2786
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
hgvs: c.32+7G>C
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

12-53573560-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53573560
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53573560
    reference: chr 12
allele count: 1
allele frequency: 8.320298199487469e-6
allele num: 120188
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+825G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.32+1G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+1450G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-50+1G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+791G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-95-110G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-90-634G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-10G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-74-634G>A
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35830
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2786
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 6.25e1
  variant carriers: 0
hgvs: c.32+1G>A
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum

12-53573561-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53573561
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53573561
    reference: chr 12
allele count: 2
allele frequency: 1.664004259850905e-5
allele num: 120192
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+1449T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-50T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.32T>C
  hgvsp: ENSP00000267085.3:p.Leu11Pro
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-95-111T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-11T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+790T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-74-635T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-90-635T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+824T>C
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35832
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2786
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu11Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

12-53573572-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53573572
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53573572
    reference: chr 12
allele count: 1
allele frequency: 8.317391665973551e-6
allele num: 120230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-95-122C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+813C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-22C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-61C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+779C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.21C>T
  hgvsp: ENST00000267085.4:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+1438C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-90-646C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-74-646C>T
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2786
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35832
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser7Ser
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS

12-53573576-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53573576
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53573576
    reference: chr 12
allele count: 1
allele frequency: 8.317114959162966e-6
allele num: 120234
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+809A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-65A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.17A>G
  hgvsp: ENSP00000267085.3:p.Lys6Arg
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+775A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-95-126A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+1434A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-90-650A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-26A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-74-650A>G
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2786
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35832
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys6Arg
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

12-53573579-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53573579
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53573579
    reference: chr 12
allele count: 7
allele frequency: 5.821786789534091e-5
allele num: 120238
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-68T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-90-653T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.14T>C
  hgvsp: ENSP00000267085.3:p.Leu5Pro
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-29T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+1431T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+772T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-74-653T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-95-129T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+806T>C
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35834
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu5Pro
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

12-53573586-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53573586
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53573586
    reference: chr 12
allele count: 7
allele frequency: 5.821205821205821e-5
allele num: 120250
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-90-660A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+799A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-36A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-95-136A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-74-660A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+1424A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.7A>G
  hgvsp: ENSP00000267085.3:p.Ile3Val
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+765A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-75A>G
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35833
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55882
  bin: 9.75e1
  variant carriers: 7
hgvs: p.Ile3Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

12-53573592-TCTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53573592
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53573589
    reference: chr 12
allele count: 1
allele frequency: 8.315593400745077e-6
allele num: 120256
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-95-145_-95-143delGAG
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+790_-47+792delGAG
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-45_-43delGAG
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+1415_-50+1417delGAG
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.-3_-1delGAG
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-84_-82delGAG
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-74-669_-74-667delGAG
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-90-669_-90-667delGAG
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+756_30+758delGAG
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35833
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: TCTC
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

12-53573594-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53573594
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53573594
    reference: chr 12
allele count: 2
allele frequency: 1.66306336271412e-5
allele num: 120260
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-74-668A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-95-144A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+757A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+1416A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+791A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-90-668A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-44A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-83A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.-2A>G
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35834
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55882
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD

12-53573597-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53573597
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53573597
    reference: chr 12
allele count: 6
allele frequency: 4.989190088142359e-5
allele num: 120260
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-90-671A>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+788A>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.-5A>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+1413A>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-95-147A>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-47A>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+754A>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-86A>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-74-671A>C
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35836
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-53573603-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53573603
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53573603
    reference: chr 12
allele count: 1
allele frequency: 8.315040244794785e-6
allele num: 120264
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-95-153G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-92G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.-11G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-53G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-74-677G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+1407G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+748G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+782G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-90-677G>A
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35835
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/12-53573604-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53573604
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53573604
    reference: chr 12
allele count: 4
allele frequency: 3.326016097917914e-5
allele num: 120264
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+1406T>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+781T>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-95-154T>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.-12T>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-54T>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+747T>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-90-678T>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-74-678T>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-93T>G
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35837
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

12-53573606-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53573606
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53573606
    reference: chr 12
allele count: 3
allele frequency: 2.494470590191741e-5
allele num: 120266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-56C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+1404C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-74-680C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.-14C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-95-156C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-90-680C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-95C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+779C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+745C>T
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35838
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD

12-53573610-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53573610
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53573610
    reference: chr 12
allele count: 1
allele frequency: 8.315040244794785e-6
allele num: 120264
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+741T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+1400T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.-18T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-99T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-90-684T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-74-684T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-95-160T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-60T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+775T>C
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35837
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-53573612-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53573612
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53573612
    reference: chr 12
allele count: 1
allele frequency: 8.314901967305805e-6
allele num: 120266
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-101A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-90-686A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+773A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-95-162A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.-20A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+739A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-62A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+1398A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-74-686A>G
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35838
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

12-53573613-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53573613
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53573613
    reference: chr 12
allele count: 4
allele frequency: 3.326016097917914e-5
allele num: 120264
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-63A>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+772A>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.-21A>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-102A>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-95-163A>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-74-687A>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+738A>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+1397A>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-90-687A>C
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35840
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum

12-53573621-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53573621
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53573621
    reference: chr 12
allele count: 5
allele frequency: 4.157589263441486e-5
allele num: 120262
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+1389T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-110T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-71T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-74-695T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-95-171T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-90-695T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.-29T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+730T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+764T>C
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35840
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

12-53573622-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53573622
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53573622
    reference: chr 12
allele count: 1
allele frequency: 8.315178526882972e-6
allele num: 120262
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-111A>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.-30A>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-72A>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+1388A>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+729A>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-90-696A>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-95-172A>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+763A>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-74-696A>T
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2786
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35841
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum

12-53573626-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53573626
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53573626
    reference: chr 12
allele count: 181
allele frequency: 1.505047313365818e-3
allele num: 120262
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-115A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+1384A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+759A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-95-176A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-90-700A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.-34A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-76A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-74-700A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+725A>G
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35904
  bin: 9.75e1
  variant carriers: 111
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 1
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum

12-53573634-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53573634
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53573634
    reference: chr 12
allele count: 1
allele frequency: 8.315455104857889e-6
allele num: 120258
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-84G>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-123G>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+717G>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.-42G>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-95-184G>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+1376G>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-90-708G>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-74-708G>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+751G>C
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35867
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55901
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

12-53573635-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53573635
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53573635
    reference: chr 12
allele count: 1
allele frequency: 8.315455104857889e-6
allele num: 120258
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.-43G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-90-709G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-85G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-95-185G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-124G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-74-709G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+1375G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+716G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+750G>A
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35868
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-53574320-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53574320
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53574320
    reference: chr 12
allele count: 1
allele frequency: 9.604302727621975e-5
allele num: 10412
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.-205+31T>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+65T>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+31T>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-96+31T>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-247+65T>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-91+196T>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-286+31T>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+690T>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-75+31T>A
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2969
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

12-53574321-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53574321
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53574321
    reference: chr 12
allele count: 1
allele frequency: 9.600614439324117e-5
allele num: 10416
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+30A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-91+195A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+689A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-286+30A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-247+64A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-75+30A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.-205+30A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+64A>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-96+30A>G
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2984
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

12-53574321-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53574321
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53574321
    reference: chr 12
allele count: 1
allele frequency: 9.600614439324117e-5
allele num: 10416
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-247+64A>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+64A>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+30A>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-75+30A>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-91+195A>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.-205+30A>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-96+30A>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-286+30A>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+689A>C
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff

12-53574328-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53574328
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53574328
    reference: chr 12
allele count: 1
allele frequency: 9.563886763580719e-5
allele num: 10456
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.-205+23C>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+682C>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+57C>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-286+23C>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-91+188C>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-247+57C>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-96+23C>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-75+23C>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+23C>G
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3189
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

12-53574335-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53574335
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53574335
    reference: chr 12
allele count: 1
allele frequency: 9.536524890329964e-5
allele num: 10486
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+50C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+16C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+675C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-91+181C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-286+16C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-75+16C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-247+50C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.-205+16C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-96+16C>T
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3415
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

12-53574338-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53574338
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53574338
    reference: chr 12
allele count: 4
allele frequency: 3.810975609756098e-4
allele num: 10496
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+47C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-96+13C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-286+13C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.-205+13C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-75+13C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-247+47C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+13C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+672C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-91+178C>T
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3509
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-53574341-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53574341
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53574341
    reference: chr 12
allele count: 1
allele frequency: 9.518370454978108e-5
allele num: 10506
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-91+175C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-247+44C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-75+10C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-96+10C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.-205+10C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+669C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+44C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-286+10C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.30+10C>T
  variant of: http://identifiers.org/hgnc/18966
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1817
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ

12-53574366-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53574366
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53574366
    reference: chr 12
allele count: 551
allele frequency: 5.195172543843107e-2
allele num: 10606
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-91+150G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000401078
  ensembl transcript: ENST00000424990
  gene symbol: CSAD
  hgvsc: ENST00000424990.1:c.-111G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000267085
  ensembl transcript: ENST00000267085
  gene symbol: CSAD
  hgvsc: ENST00000267085.4:c.-220G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-47+19G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369179
  ensembl transcript: ENST00000379850
  gene symbol: CSAD
  hgvsc: ENST00000379850.3:c.15G>A
  hgvsp: ENSP00000369179.3:p.Arg6Gln
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-301G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-247+19G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+644G>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369175
  ensembl transcript: ENST00000379846
  gene symbol: CSAD
  hgvsc: ENST00000379846.1:c.-90G>A
  variant of: http://identifiers.org/hgnc/18966
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 3.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 2.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3083
  bin: 2.5e0
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.5e0
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 3.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 6.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 9.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 9.75e1
  variant carriers: 530
hgvs: p.Arg6Gln
num of homozygotes: 16
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

12-53574398-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53574398
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53574398
    reference: chr 12
allele count: 1
allele frequency: 9.432182607055272e-5
allele num: 10602
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+612C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-260C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-333C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-60C>T
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-91+118C>T
  variant of: http://identifiers.org/hgnc/18966
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  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 quality: GenotypeQuality
  all individuals: 2335
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
reference allele: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

12-53574419-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53574419
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53574419
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 10582
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-91+97C>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+591C>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-81C>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-354C>G
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-281C>G
  variant of: http://identifiers.org/hgnc/18966
canonical: false
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1280
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2804
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP

12-53574420-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53574420
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53574420
    reference: chr 12
allele count: 1
allele frequency: 9.446438692612885e-5
allele num: 10586
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-282T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-355T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-82T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-91+96T>C
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+590T>C
  variant of: http://identifiers.org/hgnc/18966
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2875
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

12-53574427-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53574427
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53574427
    reference: chr 12
allele count: 1
allele frequency: 9.44822373393802e-5
allele num: 10584
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000369172
  ensembl transcript: ENST00000379843
  gene symbol: CSAD
  hgvsc: ENST00000379843.3:c.-362T>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000410648
  ensembl transcript: ENST00000453446
  gene symbol: CSAD
  hgvsc: ENST00000453446.2:c.-289T>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415485
  ensembl transcript: ENST00000444623
  gene symbol: CSAD
  hgvsc: ENST00000444623.1:c.-91+89T>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000415314
  ensembl transcript: ENST00000437073
  gene symbol: CSAD
  hgvsc: ENST00000437073.1:c.-89T>A
  variant of: http://identifiers.org/hgnc/18966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139631
  ensembl protein: ENSP00000439419
  ensembl transcript: ENST00000542115
  gene symbol: CSAD
  hgvsc: ENST00000542115.1:c.-50+583T>A
  variant of: http://identifiers.org/hgnc/18966
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3963
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.75e1
  variant carriers: 1
num of homozygotes: 0
reference allele: A

GenotypeDepth
all individuals: 1022
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 946
bin: 9.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 61
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1421
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 886
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8034
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 660
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30858
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3456
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8796
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 267
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14974
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62798
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10408
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6248
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.051524710830704e-4
allele num: 9510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8286
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

QD
type: SiteQuality
SIO_000300: 1.543e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.143e0

DP
type: SiteQuality
SIO_000300: 1.689405e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 2.808e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.408e0

VQSLOD
type: SiteQuality
SIO_000300: -1.68e-1

GenotypeDepth
all individuals: 1057
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8035
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 840
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9666
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1756
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 713
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1657
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3378
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30359
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 757
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6234
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.223864836325237e-4
allele num: 9470
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14954
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62696
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8250
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.022e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.383e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.99e-1

DP
type: SiteQuality
SIO_000300: 1.676797e6

QD
type: SiteQuality
SIO_000300: 1.169e1

GenotypeDepth
all individuals: 615
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10879
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3262
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2051
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29214
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 809
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1990
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8035
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 553
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8230
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14940
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6222
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62500
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.236390595212879e-4
allele num: 9442
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.089e0

QD
type: SiteQuality
SIO_000300: 1.217e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.82e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.27e-1

DP
type: SiteQuality
SIO_000300: 1.656391e6

GenotypeQuality
all individuals: 304
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.5e0
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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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: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8031
bin: 9.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14862
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10216
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62126
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9364
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6204
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8184
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.485e0

DP
type: SiteQuality
SIO_000300: 1.604664e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.72e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.365e1

GenotypeQuality
all individuals: 728
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21968
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
all individuals: 530
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variant carriers: 0

GenotypeQuality
all individuals: 3665
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.815469179426777e-5
allele num: 10188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61946
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9338
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6198
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14842
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8168
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.78e-1

DP
type: SiteQuality
SIO_000300: 1.585118e6

QD
type: SiteQuality
SIO_000300: 5.89e0

FS
type: SiteQuality
SIO_000300: 2.673e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -8.738e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.42e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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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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: 627
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.622323166774821e-5
allele num: 61640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10142
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8126
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14790
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6172
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.098e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.8e-1

FS
type: SiteQuality
SIO_000300: 1.567e0

DP
type: SiteQuality
SIO_000300: 1.544306e6

MQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.100000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

QD
type: SiteQuality
SIO_000300: 1.186e1

GenotypeQuality
all individuals: 2262
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 525
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variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.075962986873252e-4
allele num: 9294
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61680
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6184
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10134
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14792
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8124
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e-1

MQ
type: SiteQuality
SIO_000300: 6.077e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.428e0

DP
type: SiteQuality
SIO_000300: 1.54389e6

QD
type: SiteQuality
SIO_000300: 1.181e1

GenotypeQuality
all individuals: 596
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1049
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8032
bin: 9.75e1
variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 15944
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2010
bin: 6.75e1
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: 291
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variant carriers: 0

GenotypeQuality
all individuals: 4923
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8058
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.906289863605141e-5
allele num: 61146
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9188
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10014
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6112
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.439e0

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

MQRankSum
type: SiteQuality
SIO_000300: -4.57e-1

DP
type: SiteQuality
SIO_000300: 1.495295e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

QD
type: SiteQuality
SIO_000300: 1.282e1

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 2.018e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-2

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8058
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6112
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.635429954535047e-5
allele num: 61146
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10014
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9188
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14640
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.439e0

MQRankSum
type: SiteQuality
SIO_000300: -4.57e-1

FS
type: SiteQuality
SIO_000300: 2.018e0

DP
type: SiteQuality
SIO_000300: 1.495295e6

QD
type: SiteQuality
SIO_000300: 1.282e1

MQ
type: SiteQuality
SIO_000300: 5.962e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

GenotypeQuality
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bin: 2.75e1
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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GenotypeQuality
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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: 1982
bin: 5.25e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8029
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 920
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.824884119858389e-5
allele num: 54798
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7198
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8300
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5600
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-3

DP
type: SiteQuality
SIO_000300: 1.400885e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.827e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

VQSLOD
type: SiteQuality
SIO_000300: -1.049e0

QD
type: SiteQuality
SIO_000300: 6.66e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 889
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GenotypeQuality
all individuals: 662
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GenotypeQuality
all individuals: 8024
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 413
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5145
bin: 1.75e1
variant carriers: 0

South Asian
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allele count: 0
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European (Finnish)
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Latino
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Other
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African
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East Asian
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BaseQRankSum
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MQ
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InbreedingCoeff
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QD
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ClippingRankSum
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VQSLOD
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DP
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FS
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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Latino
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Other
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African
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European (Non-Finnish)
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MQ
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FS
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DP
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VQSLOD
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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European (Finnish)
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African
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Latino
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East Asian
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Other
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VQSLOD
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MQ
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BaseQRankSum
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ClippingRankSum
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FS
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QD
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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Latino
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East Asian
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African
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European (Finnish)
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South Asian
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European (Non-Finnish)
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DP
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FS
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VQSLOD
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QD
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MQ
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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East Asian
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Other
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European (Finnish)
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European (Non-Finnish)
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South Asian
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DP
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ClippingRankSum
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QD
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VQSLOD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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FS
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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Latino
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European (Non-Finnish)
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South Asian
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Other
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InbreedingCoeff
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VQSLOD
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MQRankSum
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MQ
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FS
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ReadPosRankSum
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ClippingRankSum
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QD
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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East Asian
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Other
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European (Finnish)
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Latino
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MQ
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DP
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QD
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FS
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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South Asian
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Other
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European (Finnish)
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European (Non-Finnish)
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African
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QD
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BaseQRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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MQRankSum
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VQSLOD
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MQ
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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East Asian
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South Asian
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FS
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ReadPosRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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DP
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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East Asian
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allele frequency: 2.5e-1
allele num: 92
num of homozygotes: 0

South Asian
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allele count: 1175
allele frequency: 2.713625866050808e-1
allele num: 4330
num of homozygotes: 0

European (Non-Finnish)
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allele count: 394
allele frequency: 2.588699080157687e-1
allele num: 1522
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.64e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.7e-2

MQ
type: SiteQuality
SIO_000300: 5.876e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.08e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.38e-1

ClippingRankSum
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SIO_000300: -1.62e-1

InbreedingCoeff
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SIO_000300: -5.14e-2

QD
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SIO_000300: 1.04e0

DP
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SIO_000300: 2.2998e5

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 2

European (Non-Finnish)
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allele count: 11
allele frequency: 7.227332457293035e-3
allele num: 1522
num of homozygotes: 0

Latino
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allele frequency: 1.724137931034483e-2
allele num: 58
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 5.773672055427252e-3
allele num: 4330
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 66
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

QD
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BaseQRankSum
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MQ
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FS
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ReadPosRankSum
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DP
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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SIO_000300: -1.62e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 1.334757074212493e-4
allele num: 7492
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 92
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2706
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.34e-1

ClippingRankSum
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DP
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SIO_000300: 1.93175e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.98e-2

BaseQRankSum
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MQ
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SIO_000300: 5.855e1

FS
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SIO_000300: 1.0958e1

QD
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VQSLOD
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ReadPosRankSum
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SIO_000300: -2.016e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 2.669514148424986e-4
allele num: 7492
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2710
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.11e-2

ClippingRankSum
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SIO_000300: 3.02e0

ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 2.1004e1

BaseQRankSum
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QD
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SIO_000300: 1.23e0

MQRankSum
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SIO_000300: -3.253e0

DP
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SIO_000300: 1.93272e5

MQ
type: SiteQuality
SIO_000300: 5.711e1

VQSLOD
type: SiteQuality
SIO_000300: -4.33e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7498
num of homozygotes: 0

African
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allele count: 1
allele frequency: 5.263157894736842e-3
allele num: 190
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
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European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2714
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 132
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 92
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.21e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.09e-2

BaseQRankSum
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SIO_000300: 3.45e0

QD
type: SiteQuality
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MQRankSum
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SIO_000300: 1.8e0

MQ
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DP
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SIO_000300: 1.9294e5

FS
type: SiteQuality
SIO_000300: 4.637e0

ReadPosRankSum
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SIO_000300: 1.16e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 559

African
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allele count: 25
allele frequency: 1.31578947368421e-1
allele num: 190
num of homozygotes: 1

Other
type: Population
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allele frequency: 5.833333333333333e-2
allele num: 120
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East Asian
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allele frequency: 1.96969696969697e-1
allele num: 132
num of homozygotes: 1

South Asian
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allele count: 244
allele frequency: 3.25246600906425e-2
allele num: 7502
num of homozygotes: 3

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
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allele count: 4
allele frequency: 4.347826086956522e-2
allele num: 92
num of homozygotes: 0

European (Non-Finnish)
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allele count: 277
allele frequency: 1.019131714495953e-1
allele num: 2718
num of homozygotes: 13

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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DP
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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African
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allele frequency: 0.0e0
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Latino
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allele num: 92
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South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 2710
num of homozygotes: 0

European (Finnish)
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allele count: 0
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allele num: 0
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MQ
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SIO_000300: 5.844e1

MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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FS
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BaseQRankSum
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ClippingRankSum
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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Other
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South Asian
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allele frequency: 1.333333333333333e-4
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European (Finnish)
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num of homozygotes: 0

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

East Asian
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FS
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MQRankSum
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ClippingRankSum
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VQSLOD
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QD
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BaseQRankSum
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DP
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InbreedingCoeff
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

Latino
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num of homozygotes: 0

African
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allele frequency: 1.041666666666667e-2
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Other
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European (Non-Finnish)
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South Asian
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allele num: 7498
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

East Asian
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ClippingRankSum
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MQRankSum
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DP
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MQ
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FS
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BaseQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
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allele count: 1
allele frequency: 1.334757074212493e-4
allele num: 7492
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 120
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2696
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.355e-1

MQRankSum
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DP
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SIO_000300: 1.86503e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

InbreedingCoeff
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SIO_000300: -3.36e-2

QD
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SIO_000300: 8.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.218e0

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

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

African
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allele count: 4
allele frequency: 4.192872117400419e-4
allele num: 9540
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65988
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South Asian
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: -6.6e-2

VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: 2.2e-3

MQ
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SIO_000300: 5.951e1

QD
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ClippingRankSum
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BaseQRankSum
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DP
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FS
type: SiteQuality
SIO_000300: 0.0e0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9674
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447535e-5
allele num: 66140
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
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QD
type: SiteQuality
SIO_000300: 1.424e1

BaseQRankSum
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SIO_000300: 4.14e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.61e-1

DP
type: SiteQuality
SIO_000300: 6.409859e6

FS
type: SiteQuality
SIO_000300: 2.334e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.688e0

VQSLOD
type: SiteQuality
SIO_000300: 7.199999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9684
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-2

FS
type: SiteQuality
SIO_000300: 5.066e0

VQSLOD
type: SiteQuality
SIO_000300: 4.82e-1

QD
type: SiteQuality
SIO_000300: 1.545e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

DP
type: SiteQuality
SIO_000300: 6.413259e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.34e0

MQ
type: SiteQuality
SIO_000300: 5.937e1

MQRankSum
type: SiteQuality
SIO_000300: 1.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e0

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.487561032318065e-4
allele num: 8602
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66164
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.977e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.79e-1

DP
type: SiteQuality
SIO_000300: 6.413647e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.69e-1

FS
type: SiteQuality
SIO_000300: 1.615e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.96e0

MQRankSum
type: SiteQuality
SIO_000300: 5.74e-1

QD
type: SiteQuality
SIO_000300: 1.497e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

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

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.510345869204048e-5
allele num: 66210
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9706
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.510209012927389e-5
allele num: 66216
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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InbreedingCoeff
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MQ
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MQRankSum
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QD
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ClippingRankSum
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FS
type: SiteQuality
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BaseQRankSum
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DP
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SIO_000300: 6.417602e6

ReadPosRankSum
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VQSLOD
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SIO_000300: -3.031e-1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.50993537476596e-5
allele num: 66228
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 9706
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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Other
type: Population
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allele frequency: 0.0e0
allele num: 900
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Latino
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South Asian
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East Asian
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ReadPosRankSum
type: SiteQuality
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QD
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InbreedingCoeff
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MQRankSum
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FS
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
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MQ
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BaseQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

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

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.01987074953192e-5
allele num: 66228
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 900
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South Asian
type: Population
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allele frequency: 0.0e0
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FS
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQ
type: SiteQuality
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BaseQRankSum
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MQRankSum
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 50
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 7.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9716
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.018959062915107e-5
allele num: 66248
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.148e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.26e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

FS
type: SiteQuality
SIO_000300: 4.856e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

VQSLOD
type: SiteQuality
SIO_000300: 7.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

DP
type: SiteQuality
SIO_000300: 6.418968e6

GenotypeQuality
all individuals: 471
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 503
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 6.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9722
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509115054931788e-5
allele num: 66264
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.0e-2

DP
type: SiteQuality
SIO_000300: 6.419604e6

VQSLOD
type: SiteQuality
SIO_000300: -2.71e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

QD
type: SiteQuality
SIO_000300: 1.11e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.71e0

FS
type: SiteQuality
SIO_000300: 1.983e0

MQRankSum
type: SiteQuality
SIO_000300: -3.56e-1

GenotypeQuality
all individuals: 1387
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66266
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.729804532087874e-4
allele num: 11562
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9722
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.1e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.67e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.419762e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e0

VQSLOD
type: SiteQuality
SIO_000300: 5.620000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.407e0

GenotypeQuality
all individuals: 55882
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9732
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66282
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 6.42028e6

MQRankSum
type: SiteQuality
SIO_000300: 9.13e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.879999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.115e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.55e-1

QD
type: SiteQuality
SIO_000300: 9.4e0

VQSLOD
type: SiteQuality
SIO_000300: -9.729e-1

FS
type: SiteQuality
SIO_000300: 8.645e0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55882
bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66284
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9734
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.48e-1

DP
type: SiteQuality
SIO_000300: 6.420426e6

QD
type: SiteQuality
SIO_000300: 1.416e1

VQSLOD
type: SiteQuality
SIO_000300: 3.37e-1

FS
type: SiteQuality
SIO_000300: 6.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.79e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 503
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
all individuals: 55882
bin: 9.75e1
variant carriers: 7

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 562
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.542843350229302e-5
allele num: 66288
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.027326895418122e-4
allele num: 9734
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.256e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.04e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

DP
type: SiteQuality
SIO_000300: 6.421451e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.909e0

FS
type: SiteQuality
SIO_000300: 1.738e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.83e0

GenotypeQuality
all individuals: 405
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1407
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.016955288722621e-5
allele num: 66292
num of homozygotes: 0

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

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

African
type: Population
allele count: 4
allele frequency: 4.108463434675431e-4
allele num: 9736
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.74e-1

DP
type: SiteQuality
SIO_000300: 6.421725e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.329e1

MQ
type: SiteQuality
SIO_000300: 5.939e1

MQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1402
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66294
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.551e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.73e-1

MQ
type: SiteQuality
SIO_000300: 5.856e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.178e0

MQRankSum
type: SiteQuality
SIO_000300: -1.144e0

VQSLOD
type: SiteQuality
SIO_000300: 3.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.85e-1

DP
type: SiteQuality
SIO_000300: 6.421097e6

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 506
bin: 7.75e1
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GenotypeQuality
all individuals: 410
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 8.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.016773259321829e-5
allele num: 66296
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-2

MQ
type: SiteQuality
SIO_000300: 5.98e1

VQSLOD
type: SiteQuality
SIO_000300: 2.2e-1

FS
type: SiteQuality
SIO_000300: 3.316e0

DP
type: SiteQuality
SIO_000300: 6.4213e6

QD
type: SiteQuality
SIO_000300: 1.311e1

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.050319777965489e-5
allele num: 66296
num of homozygotes: 0

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.922e1

MQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

QD
type: SiteQuality
SIO_000300: 1.272e1

DP
type: SiteQuality
SIO_000300: 6.421595e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.23e-1

FS
type: SiteQuality
SIO_000300: 5.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508295625942685e-5
allele num: 66300
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.164e0

QD
type: SiteQuality
SIO_000300: 1.165e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.42e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.03e-1

DP
type: SiteQuality
SIO_000300: 6.421446e6

MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.68e0

VQSLOD
type: SiteQuality
SIO_000300: -4.861e-1

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

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

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 55883
bin: 9.75e1
variant carriers: 4

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.033000512805044e-5
allele num: 66302
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.03e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

MQRankSum
type: SiteQuality
SIO_000300: 2.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.8e-2

DP
type: SiteQuality
SIO_000300: 6.421768e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

QD
type: SiteQuality
SIO_000300: 1.237e1

GenotypeQuality
all individuals: 1395
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 20
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.524886877828054e-5
allele num: 66300
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.963e1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.191e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.42175e6

QD
type: SiteQuality
SIO_000300: 1.083e1

VQSLOD
type: SiteQuality
SIO_000300: 4.64e-1

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

GenotypeQuality
all individuals: 19
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508341126429153e-5
allele num: 66298
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.93e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.7e0

DP
type: SiteQuality
SIO_000300: 6.421638e6

QD
type: SiteQuality
SIO_000300: 1.347e1

FS
type: SiteQuality
SIO_000300: 1.956e0

VQSLOD
type: SiteQuality
SIO_000300: 3.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.32e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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: 9.25e1
variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508295625942685e-5
allele num: 66300
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.49e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.95e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

FS
type: SiteQuality
SIO_000300: 1.877e0

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 6.421651e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.18e-1

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

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

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

South Asian
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allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66298
num of homozygotes: 0

Other
type: Population
allele count: 0
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MQRankSum
type: SiteQuality
SIO_000300: -7.51e-1

ReadPosRankSum
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VQSLOD
type: SiteQuality
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ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 5.952e1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.541705632145766e-5
allele num: 66298
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 900
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

Latino
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num of homozygotes: 0

South Asian
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.68e0

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.44e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.39e-1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 6.421791e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 406
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variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66298
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.67e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

DP
type: SiteQuality
SIO_000300: 6.421698e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.05e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.053e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-1

FS
type: SiteQuality
SIO_000300: 1.498e0

QD
type: SiteQuality
SIO_000300: 2.332e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.120000000000001e-1

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1330
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55906
bin: 9.75e1
variant carriers: 180

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 163
allele frequency: 9.872804360993337e-3
allele num: 16510
num of homozygotes: 1

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

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

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.508295625942685e-4
allele num: 66300
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 7
allele frequency: 1.058361052313275e-3
allele num: 6614
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.67e-1

DP
type: SiteQuality
SIO_000300: 6.428596e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.98e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.9e0

FS
type: SiteQuality
SIO_000300: 6.55e-1

QD
type: SiteQuality
SIO_000300: 1.532e1

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.02e0

MQRankSum
type: SiteQuality
SIO_000300: 2.87e-1

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 8.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508432135638218e-5
allele num: 66294
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.94e-1

MQ
type: SiteQuality
SIO_000300: 5.988e1

FS
type: SiteQuality
SIO_000300: 1.597e0

VQSLOD
type: SiteQuality
SIO_000300: 3.03e0

DP
type: SiteQuality
SIO_000300: 6.424805e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e0

MQRankSum
type: SiteQuality
SIO_000300: 1.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

QD
type: SiteQuality
SIO_000300: 1.737e1

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 473
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GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

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

GenotypeQuality
all individuals: 363
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 409
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variant carriers: 0

GenotypeQuality
all individuals: 1282
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55901
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 1
allele frequency: 1.026694045174538e-4
allele num: 9740
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66294
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.2e1

MQRankSum
type: SiteQuality
SIO_000300: 2.24e0

DP
type: SiteQuality
SIO_000300: 6.424849e6

VQSLOD
type: SiteQuality
SIO_000300: -1.071e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e-1

FS
type: SiteQuality
SIO_000300: 1.894e0

MQ
type: SiteQuality
SIO_000300: 5.865e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e-1

GenotypeQuality
all individuals: 490
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1676
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1214
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.863987635239567e-4
allele num: 2588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7294
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 90
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.082e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.47e-1

MQ
type: SiteQuality
SIO_000300: 5.924e1

MQRankSum
type: SiteQuality
SIO_000300: -1.284e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.39e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.99e-1

QD
type: SiteQuality
SIO_000300: 1.011e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

DP
type: SiteQuality
SIO_000300: 1.72392e5

GenotypeQuality
all individuals: 1045
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 295
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1175
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
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variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1685
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.370614035087719e-4
allele num: 7296
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2590
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 90
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.82e0

QD
type: SiteQuality
SIO_000300: 1.064e1

VQSLOD
type: SiteQuality
SIO_000300: -1.285e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.77e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

DP
type: SiteQuality
SIO_000300: 1.72583e5

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.47e-1

GenotypeQuality
all individuals: 271
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2984
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1685
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1045
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 650
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7296
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 90
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 5.263157894736842e-3
allele num: 190
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2590
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

MQRankSum
type: SiteQuality
SIO_000300: 4.77e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.285e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.72583e5

QD
type: SiteQuality
SIO_000300: 1.064e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

FS
type: SiteQuality
SIO_000300: 7.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.77e-2

GenotypeQuality
all individuals: 659
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1766
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 973
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2612
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.368363437328955e-4
allele num: 7308
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.297e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.17e-2

DP
type: SiteQuality
SIO_000300: 1.74452e5

FS
type: SiteQuality
SIO_000300: 5.206e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.93e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.235000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.15e-1

GenotypeQuality
all individuals: 743
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1792
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
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GenotypeQuality
all individuals: 1045
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 658
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.365374112506827e-4
allele num: 7324
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.69e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.094e0

QD
type: SiteQuality
SIO_000300: 1.092e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.05e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e0

DP
type: SiteQuality
SIO_000300: 1.75738e5

FS
type: SiteQuality
SIO_000300: 3.187e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.26e-1

MQ
type: SiteQuality
SIO_000300: 5.855e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.04e-1

GenotypeQuality
all individuals: 56
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1046
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 269
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1815
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 5.455537370430987e-4
allele num: 7332
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.95e1

VQSLOD
type: SiteQuality
SIO_000300: -8.79e-1

QD
type: SiteQuality
SIO_000300: 9.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.03e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.41e-1

DP
type: SiteQuality
SIO_000300: 1.76229e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.3e-2

FS
type: SiteQuality
SIO_000300: 2.891e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.34e-1

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3664
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1043
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 506
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.362769146906514e-4
allele num: 7338
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2630
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.0e-1

FS
type: SiteQuality
SIO_000300: 9.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.02e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.09e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.12e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.01e0

QD
type: SiteQuality
SIO_000300: 1.477e1

DP
type: SiteQuality
SIO_000300: 1.76517e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 629
bin: 6.75e1
variant carriers: 4

GenotypeQuality
all individuals: 407
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 6

GenotypeQuality
all individuals: 278
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 50
bin: 1.25e1
variant carriers: 12

GenotypeQuality
all individuals: 335
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 401
bin: 2.25e1
variant carriers: 9

GenotypeQuality
all individuals: 26
bin: 3.25e1
variant carriers: 8

GenotypeQuality
all individuals: 2693
bin: 7.5e0
variant carriers: 32

GenotypeQuality
all individuals: 33
bin: 2.75e1
variant carriers: 12

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 3

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 170
bin: 8.75e1
variant carriers: 1

Latino
type: Population
allele count: 4
allele frequency: 4.25531914893617e-2
allele num: 94
num of homozygotes: 0

East Asian
type: Population
allele count: 28
allele frequency: 2.058823529411765e-1
allele num: 136
num of homozygotes: 1

South Asian
type: Population
allele count: 239
allele frequency: 3.235851611156242e-2
allele num: 7386
num of homozygotes: 3

African
type: Population
allele count: 3
allele frequency: 1.530612244897959e-2
allele num: 196
num of homozygotes: 0

Other
type: Population
allele count: 8
allele frequency: 6.557377049180328e-2
allele num: 122
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 269
allele frequency: 1.00749063670412e-1
allele num: 2670
num of homozygotes: 12

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.12e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.87e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

VQSLOD
type: SiteQuality
SIO_000300: 6.36e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.59e-1

DP
type: SiteQuality
SIO_000300: 1.89002e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

QD
type: SiteQuality
SIO_000300: 1.319e1

GenotypeQuality
all individuals: 297
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1742
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 965
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 1.356116083536751e-4
allele num: 7374
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2672
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 96
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.0821e1

DP
type: SiteQuality
SIO_000300: 1.75351e5

MQRankSum
type: SiteQuality
SIO_000300: 9.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.75e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.328e0

VQSLOD
type: SiteQuality
SIO_000300: -1.393e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 8.789999999999999e0

GenotypeQuality
all individuals: 413
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 961
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 9.25e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7362
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 96
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2658
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.218e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.754e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 4.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.31e-2

DP
type: SiteQuality
SIO_000300: 1.72605e5

GenotypeQuality
all individuals: 95
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 7.462686567164179e-3
allele num: 134
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7368
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 96
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2656
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.438e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.36e-2

FS
type: SiteQuality
SIO_000300: 4.863e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.72659e5

MQRankSum
type: SiteQuality
SIO_000300: 8.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.18e-1

QD
type: SiteQuality
SIO_000300: 1.033e1