19-39221822-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39221822
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39221822
    reference: chr 19
allele count: 172
allele frequency: 1.46562595862163e-3
allele num: 117356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*110C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000252699
  ensembl transcript: ENST00000252699
  gene symbol: ACTN4
  hgvsc: ENST00000252699.2:c.*1750G>A
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.505C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1552C>T
  hgvsp: ENSP00000473156.1:p.Arg518Cys
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.157C>T
  hgvsp: ENSP00000470760.1:p.Arg53Cys
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1999C>T
  hgvsp: ENSP00000331636.3:p.Arg667Cys
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.153C>T
  hgvsp: ENSP00000471007.1:p.Arg52Cys
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.563C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000398393
  ensembl transcript: ENST00000440400
  gene symbol: ACTN4
  hgvsc: ENST00000440400.1:c.*1750G>A
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1719C>T
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 3.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13427
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 6457
  bin: 3.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 4.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 31941
  bin: 2.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg667Cys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

19-39221824-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39221824
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39221824
    reference: chr 19
allele count: 1
allele frequency: 8.508321138073035e-6
allele num: 117532
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1550G>C
  hgvsp: ENSP00000473156.1:p.Ser517Thr
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.155G>C
  hgvsp: ENSP00000470760.1:p.Ser52Thr
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.561G>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*108G>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.503G>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1997G>C
  hgvsp: ENSP00000331636.3:p.Ser666Thr
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.151G>C
  hgvsp: ENSP00000471007.1:p.Ser51Thr
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000252699
  ensembl transcript: ENST00000252699
  gene symbol: ACTN4
  hgvsc: ENST00000252699.2:c.*1752C>G
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1717G>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000398393
  ensembl transcript: ENST00000440400
  gene symbol: ACTN4
  hgvsc: ENST00000440400.1:c.*1752C>G
  variant of: http://identifiers.org/hgnc/166
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser666Thr
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

19-39221826-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39221826
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39221826
    reference: chr 19
allele count: 1
allele frequency: 8.494733265375467e-6
allele num: 117720
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.153C>T
  hgvsp: ENST00000597987.1:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*106C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1995C>T
  hgvsp: ENST00000328867.4:c.1995C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1548C>T
  hgvsp: ENST00000601953.1:c.1548C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000398393
  ensembl transcript: ENST00000440400
  gene symbol: ACTN4
  hgvsc: ENST00000440400.1:c.*1754G>A
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.559C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.501C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.149C>T
  hgvsp: ENST00000595177.1:c.149C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1715C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000252699
  ensembl transcript: ENST00000252699
  gene symbol: ACTN4
  hgvsc: ENST00000252699.2:c.*1754G>A
  variant of: http://identifiers.org/hgnc/166
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1797
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr665Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

19-39221827-GTGAGGGTCTGGGTCAGCTGGTTGTTCAGGTGGAAGCCTA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39221827
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39221788
    reference: chr 19
allele count: 1
allele frequency: 8.49314603115286e-6
allele num: 117742
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000398393
  ensembl transcript: ENST00000440400
  gene symbol: ACTN4
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000252699
  ensembl transcript: ENST00000252699
  gene symbol: ACTN4
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: splice acceptor
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: GTGAGGGTCTGGGTCAGCTGGTTGTTCAGGTGGAAGCCTA
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

19-39221828-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39221828
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39221828
    reference: chr 19
allele count: 7676
allele frequency: 8.173957490309665e-2
allele num: 93908
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1993A>C
  hgvsp: ENSP00000331636.3:p.Thr665Pro
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1713A>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000252699
  ensembl transcript: ENST00000252699
  gene symbol: ACTN4
  hgvsc: ENST00000252699.2:c.*1756T>G
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.151A>C
  hgvsp: ENSP00000470760.1:p.Thr51Pro
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1546A>C
  hgvsp: ENSP00000473156.1:p.Thr516Pro
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.499A>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000398393
  ensembl transcript: ENST00000440400
  gene symbol: ACTN4
  hgvsc: ENST00000440400.1:c.*1756T>G
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.557A>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.147A>C
  hgvsp: ENSP00000471007.1:p.Thr50Pro
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*104A>C
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 1.75e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.75e1
  variant carriers: 371
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.5e0
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 110
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 5.75e1
  variant carriers: 639
genotype depth: GenotypeDepth
  all individuals: 7549
  bin: 3.25e1
  variant carriers: 851
genotype depth: GenotypeDepth
  all individuals: 11178
  bin: 2.75e1
  variant carriers: 589
genotype depth: GenotypeDepth
  all individuals: 3837
  bin: 4.25e1
  variant carriers: 1038
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 1.25e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 19060
  bin: 2.25e1
  variant carriers: 297
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 5.25e1
  variant carriers: 786
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5143
  bin: 3.75e1
  variant carriers: 1008
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.75e1
  variant carriers: 484
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 4.75e1
  variant carriers: 943
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 6.25e1
  variant carriers: 525
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 158
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 347
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 241
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 7.5e0
  variant carriers: 285
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 1.75e1
  variant carriers: 280
hgvs: p.Thr665Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ

19-39221829-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39221829
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39221829
    reference: chr 19
allele count: 2
allele frequency: 1.691303318337111e-5
allele num: 118252
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000398393
  ensembl transcript: ENST00000440400
  gene symbol: ACTN4
  hgvsc: ENST00000440400.1:c.*1757G>A
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.146C>T
  hgvsp: ENST00000595177.1:c.146C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.498C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*103C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000252699
  ensembl transcript: ENST00000252699
  gene symbol: ACTN4
  hgvsc: ENST00000252699.2:c.*1757G>A
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1712C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.556C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1992C>T
  hgvsp: ENST00000328867.4:c.1992C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.150C>T
  hgvsp: ENST00000597987.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1545C>T
  hgvsp: ENST00000601953.1:c.1545C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2891
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu664Leu
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD

19-39221830-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39221830
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39221830
    reference: chr 19
allele count: 3104
allele frequency: 2.692060848901147e-2
allele num: 115302
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.497T>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000398393
  ensembl transcript: ENST00000440400
  gene symbol: ACTN4
  hgvsc: ENST00000440400.1:c.*1758A>G
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1711T>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.555T>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1991T>C
  hgvsp: ENSP00000331636.3:p.Leu664Pro
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1544T>C
  hgvsp: ENSP00000473156.1:p.Leu515Pro
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*102T>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.145T>C
  hgvsp: ENSP00000471007.1:p.Leu49Pro
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000252699
  ensembl transcript: ENST00000252699
  gene symbol: ACTN4
  hgvsc: ENST00000252699.2:c.*1758A>G
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.149T>C
  hgvsp: ENSP00000470760.1:p.Leu50Pro
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 19195
  bin: 2.25e1
  variant carriers: 212
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 14008
  bin: 2.75e1
  variant carriers: 296
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 1.75e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 1.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 4.25e1
  variant carriers: 312
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 4.75e1
  variant carriers: 342
genotype depth: GenotypeDepth
  all individuals: 5180
  bin: 3.75e1
  variant carriers: 381
genotype depth: GenotypeDepth
  all individuals: 9236
  bin: 3.25e1
  variant carriers: 352
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 143
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.75e1
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 5.75e1
  variant carriers: 229
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 5.25e1
  variant carriers: 283
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 8.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 7.5e0
  variant carriers: 6
hgvs: p.Leu664Pro
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

19-39221830-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39221830
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39221829
    reference: chr 19
allele count: 1
allele frequency: 8.672876446202148e-6
allele num: 115302
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.554delC
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1990delC
  hgvsp: ENSP00000331636.3:p.Leu664SerfsTer44
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*101delC
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1543delC
  hgvsp: ENSP00000473156.1:p.Leu515SerfsTer44
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.148delC
  hgvsp: ENSP00000470760.1:p.Leu50SerfsTer44
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.496delC
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.144delC
  hgvsp: ENSP00000471007.1:p.Leu49SerfsTer44
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000398393
  ensembl transcript: ENST00000440400
  gene symbol: ACTN4
  hgvsc: ENST00000440400.1:c.*1761delG
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000252699
  ensembl transcript: ENST00000252699
  gene symbol: ACTN4
  hgvsc: ENST00000252699.2:c.*1761delG
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1710delC
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu664SerfsTer44
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: AG
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP

19-39221832-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39221832
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39221832
    reference: chr 19
allele count: 2
allele frequency: 1.693250702699042e-5
allele num: 118116
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000252699
  ensembl transcript: ENST00000252699
  gene symbol: ACTN4
  hgvsc: ENST00000252699.2:c.*1760G>A
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1709C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1989C>T
  hgvsp: ENST00000328867.4:c.1989C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000398393
  ensembl transcript: ENST00000440400
  gene symbol: ACTN4
  hgvsc: ENST00000440400.1:c.*1760G>A
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.143C>T
  hgvsp: ENST00000595177.1:c.143C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.553C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.495C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.147C>T
  hgvsp: ENST00000597987.1:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1542C>T
  hgvsp: ENST00000601953.1:c.1542C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*100C>T
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9354
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14445
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28430
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr663Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

19-39221833-GTCT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39221833
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39221830
    reference: chr 19
allele count: 17
allele frequency: 1.439263097294185e-4
allele num: 118116
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000252699
  ensembl transcript: ENST00000252699
  gene symbol: ACTN4
  hgvsc: ENST00000252699.2:c.*1762_*1764delTCT
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.143_145delAGA
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1538_1540delAGA
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1705_1707delAGA
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000398393
  ensembl transcript: ENST00000440400
  gene symbol: ACTN4
  hgvsc: ENST00000440400.1:c.*1762_*1764delTCT
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*96_*98delAGA
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1985_1987delAGA
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.491_493delAGA
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.139_141delAGA
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.549_551delAGA
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19386
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9339
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5220
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2821
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln662_Thr663delinsPro
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: GTCT
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ

19-39221834-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39221834
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39221834
    reference: chr 19
allele count: 232
allele frequency: 2.043332746168751e-3
allele num: 113540
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1540A>C
  hgvsp: ENSP00000473156.1:p.Thr514Pro
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1987A>C
  hgvsp: ENSP00000331636.3:p.Thr663Pro
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.145A>C
  hgvsp: ENSP00000470760.1:p.Thr49Pro
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.551A>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.141A>C
  hgvsp: ENSP00000471007.1:p.Thr48Pro
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000252699
  ensembl transcript: ENST00000252699
  gene symbol: ACTN4
  hgvsc: ENST00000252699.2:c.*1762T>G
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*98A>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000398393
  ensembl transcript: ENST00000440400
  gene symbol: ACTN4
  hgvsc: ENST00000440400.1:c.*1762T>G
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.493A>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1707A>C
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 4802
  bin: 3.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 14850
  bin: 2.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 4.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19930
  bin: 2.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 9164
  bin: 3.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 4.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 5.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 2.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 1.75e1
  variant carriers: 13
hgvs: p.Thr663Pro
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

19-39221837-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39221837
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39221837
    reference: chr 19
allele count: 1
allele frequency: 8.47314014573801e-6
allele num: 118020
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1704C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.142C>T
  hgvsp: ENSP00000470760.1:p.Gln48Ter
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1984C>T
  hgvsp: ENSP00000331636.3:p.Gln662Ter
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.490C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*95C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000252699
  ensembl transcript: ENST00000252699
  gene symbol: ACTN4
  hgvsc: ENST00000252699.2:c.*1765G>A
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.138C>T
  hgvsp: ENSP00000471007.1:p.Gln47Ter
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.548C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1537C>T
  hgvsp: ENSP00000473156.1:p.Gln513Ter
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000398393
  ensembl transcript: ENST00000440400
  gene symbol: ACTN4
  hgvsc: ENST00000440400.1:c.*1765G>A
  variant of: http://identifiers.org/hgnc/166
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9458
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln662Ter
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

19-39221839-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39221839
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39221839
    reference: chr 19
allele count: 2
allele frequency: 1.693824316541888e-5
allele num: 118076
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000398393
  ensembl transcript: ENST00000440400
  gene symbol: ACTN4
  hgvsc: ENST00000440400.1:c.*1767G>A
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.136C>T
  hgvsp: ENSP00000471007.1:p.Thr46Ile
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000252699
  ensembl transcript: ENST00000252699
  gene symbol: ACTN4
  hgvsc: ENST00000252699.2:c.*1767G>A
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1702C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1982C>T
  hgvsp: ENSP00000331636.3:p.Thr661Ile
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.140C>T
  hgvsp: ENSP00000470760.1:p.Thr47Ile
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1535C>T
  hgvsp: ENSP00000473156.1:p.Thr512Ile
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.488C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*93C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.546C>T
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4504
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4083
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Thr661Ile
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ

19-39221840-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39221840
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39221840
    reference: chr 19
allele count: 4
allele frequency: 3.407851690294439e-5
allele num: 117376
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000398393
  ensembl transcript: ENST00000440400
  gene symbol: ACTN4
  hgvsc: ENST00000440400.1:c.*1768T>G
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.139A>C
  hgvsp: ENSP00000470760.1:p.Thr47Pro
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1534A>C
  hgvsp: ENSP00000473156.1:p.Thr512Pro
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1701A>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*92A>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1981A>C
  hgvsp: ENSP00000331636.3:p.Thr661Pro
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.487A>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.545A>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.135A>C
  hgvsp: ENSP00000471007.1:p.Thr46Pro
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000252699
  ensembl transcript: ENST00000252699
  gene symbol: ACTN4
  hgvsc: ENST00000252699.2:c.*1768T>G
  variant of: http://identifiers.org/hgnc/166
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20356
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2370
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1417
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr661Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

19-39221842-A-AGCTGGTTGTTCAGGTGGAAGCCTAGGGGGAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39221842
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39221873
    reference: chr 19
allele count: 1
allele frequency: 8.478168715557439e-6
allele num: 117950
alternate allele: AGCTGGTTGTTCAGGTGGAAGCCTAGGGGGAG
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000398393
  ensembl transcript: ENST00000440400
  gene symbol: ACTN4
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsp: ENSP00000471007.1:p.Leu45ProfsTer22
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsp: ENSP00000331636.3:p.Leu660ProfsTer22
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsp: ENSP00000473156.1:p.Leu511ProfsTer22
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000252699
  ensembl transcript: ENST00000252699
  gene symbol: ACTN4
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsp: ENSP00000470760.1:p.Leu46ProfsTer22
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4466
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32349
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3223
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu660ProfsTer22
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum

19-39221844-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39221844
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39221844
    reference: chr 19
allele count: 1
allele frequency: 8.474001762592366e-6
allele num: 118008
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*88G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1697G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000398393
  ensembl transcript: ENST00000440400
  gene symbol: ACTN4
  hgvsc: ENST00000440400.1:c.*1772C>T
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.131G>A
  hgvsp: ENST00000595177.1:c.131G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1977G>A
  hgvsp: ENST00000328867.4:c.1977G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000252699
  ensembl transcript: ENST00000252699
  gene symbol: ACTN4
  hgvsc: ENST00000252699.2:c.*1772C>T
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.135G>A
  hgvsp: ENST00000597987.1:c.135G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.541G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1530G>A
  hgvsp: ENST00000601953.1:c.1530G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.483G>A
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4471
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16446
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1420
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln659Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

19-39221846-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39221846
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39221846
    reference: chr 19
allele count: 1
allele frequency: 8.47443263673497e-6
allele num: 118002
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.133C>T
  hgvsp: ENSP00000470760.1:p.Gln45Ter
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000252699
  ensembl transcript: ENST00000252699
  gene symbol: ACTN4
  hgvsc: ENST00000252699.2:c.*1774G>A
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1975C>T
  hgvsp: ENSP00000331636.3:p.Gln659Ter
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1695C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*86C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000398393
  ensembl transcript: ENST00000440400
  gene symbol: ACTN4
  hgvsc: ENST00000440400.1:c.*1774G>A
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.129C>T
  hgvsp: ENSP00000471007.1:p.Gln44Ter
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.481C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1528C>T
  hgvsp: ENSP00000473156.1:p.Gln510Ter
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.539C>T
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 16463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4466
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9392
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4052
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln659Ter
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

19-39221849-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39221849
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39221849
    reference: chr 19
allele count: 3
allele frequency: 2.541812820903868e-5
allele num: 118026
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*83A>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000398393
  ensembl transcript: ENST00000440400
  gene symbol: ACTN4
  hgvsc: ENST00000440400.1:c.*1777T>G
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1692A>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.126A>C
  hgvsp: ENSP00000471007.1:p.Asn43His
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.130A>C
  hgvsp: ENSP00000470760.1:p.Asn44His
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1972A>C
  hgvsp: ENSP00000331636.3:p.Asn658His
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.478A>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.536A>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000252699
  ensembl transcript: ENST00000252699
  gene symbol: ACTN4
  hgvsc: ENST00000252699.2:c.*1777T>G
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1525A>C
  hgvsp: ENSP00000473156.1:p.Asn509His
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9372
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8204
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn658His
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

19-39221850-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39221850
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39221850
    reference: chr 19
allele count: 3
allele frequency: 2.542372881355932e-5
allele num: 118000
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*82C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.477C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1524C>T
  hgvsp: ENST00000601953.1:c.1524C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.535C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1691C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000398393
  ensembl transcript: ENST00000440400
  gene symbol: ACTN4
  hgvsc: ENST00000440400.1:c.*1778G>A
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.125C>T
  hgvsp: ENST00000595177.1:c.125C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.129C>T
  hgvsp: ENST00000597987.1:c.129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1971C>T
  hgvsp: ENST00000328867.4:c.1971C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000252699
  ensembl transcript: ENST00000252699
  gene symbol: ACTN4
  hgvsc: ENST00000252699.2:c.*1778G>A
  variant of: http://identifiers.org/hgnc/166
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2384
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn657Asn
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP

19-39221851-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39221851
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39221851
    reference: chr 19
allele count: 1
allele frequency: 8.474001762592366e-6
allele num: 118008
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.128A>C
  hgvsp: ENSP00000470760.1:p.Asn43Thr
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.476A>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1690A>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1523A>C
  hgvsp: ENSP00000473156.1:p.Asn508Thr
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*81A>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000398393
  ensembl transcript: ENST00000440400
  gene symbol: ACTN4
  hgvsc: ENST00000440400.1:c.*1779T>G
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1970A>C
  hgvsp: ENSP00000331636.3:p.Asn657Thr
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.124A>C
  hgvsp: ENSP00000471007.1:p.Asn42Thr
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.534A>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000252699
  ensembl transcript: ENST00000252699
  gene symbol: ACTN4
  hgvsc: ENST00000252699.2:c.*1779T>G
  variant of: http://identifiers.org/hgnc/166
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1417
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn657Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

19-39221858-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39221858
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39221858
    reference: chr 19
allele count: 9
allele frequency: 7.631387046992386e-5
allele num: 117934
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*74C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1963C>T
  hgvsp: ENSP00000331636.3:p.His655Tyr
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.121C>T
  hgvsp: ENSP00000470760.1:p.His41Tyr
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1516C>T
  hgvsp: ENSP00000473156.1:p.His506Tyr
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.117C>T
  hgvsp: ENSP00000471007.1:p.His40Tyr
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1683C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000398393
  ensembl transcript: ENST00000440400
  gene symbol: ACTN4
  hgvsc: ENST00000440400.1:c.*1786G>A
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000252699
  ensembl transcript: ENST00000252699
  gene symbol: ACTN4
  hgvsc: ENST00000252699.2:c.*1786G>A
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.527C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.469C>T
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2558
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4464
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
hgvs: p.His655Tyr
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

19-39221864-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39221864
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39221864
    reference: chr 19
allele count: 1
allele frequency: 8.484498820654664e-6
allele num: 117862
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000252699
  ensembl transcript: ENST00000252699
  gene symbol: ACTN4
  hgvsc: ENST00000252699.2:c.*1792C>T
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.464-1G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.116-1G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*69-1G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000398393
  ensembl transcript: ENST00000440400
  gene symbol: ACTN4
  hgvsc: ENST00000440400.1:c.*1792C>T
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.112-1G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1678-1G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1511-1G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1958-1G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.522-1G>A
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8096
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3533
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
hgvs: c.1958-1G>A
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

19-39221867-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39221867
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39221867
    reference: chr 19
allele count: 1
allele frequency: 8.489252606200551e-6
allele num: 117796
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1511-4C>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000398393
  ensembl transcript: ENST00000440400
  gene symbol: ACTN4
  hgvsc: ENST00000440400.1:c.*1795G>C
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1678-4C>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000252699
  ensembl transcript: ENST00000252699
  gene symbol: ACTN4
  hgvsc: ENST00000252699.2:c.*1795G>C
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*69-4C>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1958-4C>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.522-4C>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.112-4C>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.116-4C>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.464-4C>G
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9379
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 2.75e1
  variant carriers: 0
hgvs: c.1958-4C>G
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ

19-39221874-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39221874
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39221874
    reference: chr 19
allele count: 10
allele frequency: 8.493434575073468e-5
allele num: 117738
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000398393
  ensembl transcript: ENST00000440400
  gene symbol: ACTN4
  hgvsc: ENST00000440400.1:c.*1802G>T
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1511-11C>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000252699
  ensembl transcript: ENST00000252699
  gene symbol: ACTN4
  hgvsc: ENST00000252699.2:c.*1802G>T
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.464-11C>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.116-11C>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1958-11C>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1678-11C>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*69-11C>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.522-11C>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.112-11C>A
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4442
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9346
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20215
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4039
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 2348
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD

19-39221883-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39221883
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39221883
    reference: chr 19
allele count: 2
allele frequency: 1.700969552645008e-5
allele num: 117580
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000252699
  ensembl transcript: ENST00000252699
  gene symbol: ACTN4
  hgvsc: ENST00000252699.2:c.*1811G>T
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.522-20C>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.464-20C>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.112-20C>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000398393
  ensembl transcript: ENST00000440400
  gene symbol: ACTN4
  hgvsc: ENST00000440400.1:c.*1811G>T
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1678-20C>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1511-20C>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*69-20C>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.116-20C>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1958-20C>A
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9271
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4444
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3433
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2173
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31536
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

19-39221891-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39221891
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39221891
    reference: chr 19
allele count: 4
allele frequency: 3.404718940451466e-5
allele num: 117484
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.464-28A>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.522-28A>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1958-28A>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1678-28A>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.112-28A>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1511-28A>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.116-28A>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000398393
  ensembl transcript: ENST00000440400
  gene symbol: ACTN4
  hgvsc: ENST00000440400.1:c.*1819T>C
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*69-28A>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000252699
  ensembl transcript: ENST00000252699
  gene symbol: ACTN4
  hgvsc: ENST00000252699.2:c.*1819T>C
  variant of: http://identifiers.org/hgnc/166
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2534
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15733
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4026
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-39221898-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39221898
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39221899
    reference: chr 19
allele count: 1
allele frequency: 8.522824123001398e-6
allele num: 117332
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*69-36dupT
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.522-36dupT
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1958-36dupT
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000252699
  ensembl transcript: ENST00000252699
  gene symbol: ACTN4
  hgvsc: ENST00000252699.2:c.*1827dupA
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1678-36dupT
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1511-36dupT
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.116-36dupT
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000398393
  ensembl transcript: ENST00000440400
  gene symbol: ACTN4
  hgvsc: ENST00000440400.1:c.*1827dupA
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.464-36dupT
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.112-36dupT
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14689
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3336
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

19-39221898-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39221898
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39221898
    reference: chr 19
allele count: 1
allele frequency: 8.522824123001398e-6
allele num: 117332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.112-35G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000252699
  ensembl transcript: ENST00000252699
  gene symbol: ACTN4
  hgvsc: ENST00000252699.2:c.*1826C>T
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.464-35G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.522-35G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.116-35G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1511-35G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000398393
  ensembl transcript: ENST00000440400
  gene symbol: ACTN4
  hgvsc: ENST00000440400.1:c.*1826C>T
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1958-35G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1678-35G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*69-35G>A
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18155
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/19-39221904-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39221904
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39221904
    reference: chr 19
allele count: 1
allele frequency: 8.534462158194791e-6
allele num: 117172
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.464-41T>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*69-41T>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1511-41T>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.116-41T>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1958-41T>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000398393
  ensembl transcript: ENST00000440400
  gene symbol: ACTN4
  hgvsc: ENST00000440400.1:c.*1832A>C
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000252699
  ensembl transcript: ENST00000252699
  gene symbol: ACTN4
  hgvsc: ENST00000252699.2:c.*1832A>C
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1678-41T>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.112-41T>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.522-41T>G
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5552
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26020
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

19-39221906-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39221906
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39221906
    reference: chr 19
allele count: 1
allele frequency: 8.541314337450248e-6
allele num: 117078
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1511-43G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*69-43G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.112-43G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.464-43G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.522-43G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000398393
  ensembl transcript: ENST00000440400
  gene symbol: ACTN4
  hgvsc: ENST00000440400.1:c.*1834C>T
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.116-43G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1958-43G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1678-43G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000252699
  ensembl transcript: ENST00000252699
  gene symbol: ACTN4
  hgvsc: ENST00000252699.2:c.*1834C>T
  variant of: http://identifiers.org/hgnc/166
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5712
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8501
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3265
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

19-39221912-TGGCATTGCATCCCC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39221912
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39221898
    reference: chr 19
allele count: 3
allele frequency: 2.568581115791637e-5
allele num: 116796
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000252699
  ensembl transcript: ENST00000252699
  gene symbol: ACTN4
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000398393
  ensembl transcript: ENST00000440400
  gene symbol: ACTN4
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: 3' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 12309
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19794
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5662
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7856
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18545
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2296
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: TGGCATTGCATCCCC
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-39221914-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39221914
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39221914
    reference: chr 19
allele count: 1
allele frequency: 8.567805613626239e-6
allele num: 116716
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1511-51C>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*69-51C>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.464-51C>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000398393
  ensembl transcript: ENST00000440400
  gene symbol: ACTN4
  hgvsc: ENST00000440400.1:c.*1842G>C
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.116-51C>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1678-51C>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000130402
  ensembl protein: ENSP00000252699
  ensembl transcript: ENST00000252699
  gene symbol: ACTN4
  hgvsc: ENST00000252699.2:c.*1842G>C
  variant of: http://identifiers.org/hgnc/166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.522-51C>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1958-51C>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.112-51C>G
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12562
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19579
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2259
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

19-39224293-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39224293
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39224293
    reference: chr 19
allele count: 11
allele frequency: 9.23624638946732e-5
allele num: 119096
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000601685
  gene symbol: CAPN12
  hgvsc: ENST00000601685.1:n.2020C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1677+50C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.111+1160C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1510+50C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*68+50C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.521+50C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.463+50C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1957+50C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.115+50C>T
  variant of: http://identifiers.org/hgnc/13249
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10098
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7555
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11524
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5374
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3384
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1730
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4449
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

19-39224296-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39224296
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39224296
    reference: chr 19
allele count: 2
allele frequency: 1.677739749010134e-5
allele num: 119208
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*68+47T>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1510+47T>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.521+47T>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.115+47T>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.111+1157T>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000601685
  gene symbol: CAPN12
  hgvsc: ENST00000601685.1:n.2017T>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.463+47T>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1677+47T>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1957+47T>C
  variant of: http://identifiers.org/hgnc/13249
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3929
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10182
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7558
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20491
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9049
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
reference allele: A
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

19-39224298-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39224298
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39224298
    reference: chr 19
allele count: 1
allele frequency: 8.386306838194597e-6
allele num: 119242
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.463+45T>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.115+45T>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000601685
  gene symbol: CAPN12
  hgvsc: ENST00000601685.1:n.2015T>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1510+45T>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*68+45T>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1677+45T>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.521+45T>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1957+45T>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.111+1155T>C
  variant of: http://identifiers.org/hgnc/13249
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20498
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2330
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD

19-39224298-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39224298
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39224298
    reference: chr 19
allele count: 1
allele frequency: 8.386306838194597e-6
allele num: 119242
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1510+45T>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.111+1155T>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000601685
  gene symbol: CAPN12
  hgvsc: ENST00000601685.1:n.2015T>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.115+45T>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.463+45T>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1677+45T>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*68+45T>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.521+45T>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1957+45T>A
  variant of: http://identifiers.org/hgnc/13249
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11639
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9660
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

19-39224305-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39224305
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39224305
    reference: chr 19
allele count: 1
allele frequency: 8.381105635455429e-6
allele num: 119316
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.111+1148C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000601685
  gene symbol: CAPN12
  hgvsc: ENST00000601685.1:n.2008C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.463+38C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.521+38C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1510+38C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1957+38C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*68+38C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.115+38C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1677+38C>T
  variant of: http://identifiers.org/hgnc/13249
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4999
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11905
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20525
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4303
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/19-39224307-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39224307
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39224307
    reference: chr 19
allele count: 1
allele frequency: 8.382791804982731e-6
allele num: 119292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.463+36G>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1677+36G>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.115+36G>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000601685
  gene symbol: CAPN12
  hgvsc: ENST00000601685.1:n.2006G>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1510+36G>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*68+36G>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1957+36G>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.521+36G>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.111+1146G>T
  variant of: http://identifiers.org/hgnc/13249
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5010
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10634
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5693
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2393
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3447
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20543
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum

19-39224310-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39224310
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39224310
    reference: chr 19
allele count: 4
allele frequency: 3.351374901553362e-5
allele num: 119354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.111+1143C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.463+33C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000601685
  gene symbol: CAPN12
  hgvsc: ENST00000601685.1:n.2003C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1957+33C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.115+33C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1510+33C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1677+33C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.521+33C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*68+33C>T
  variant of: http://identifiers.org/hgnc/13249
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7680
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12124
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5768
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-39224317-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39224317
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39224317
    reference: chr 19
allele count: 372
allele frequency: 3.112710233453267e-3
allele num: 119510
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1957+26G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1677+26G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.521+26G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1510+26G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000601685
  gene symbol: CAPN12
  hgvsc: ENST00000601685.1:n.1996G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*68+26G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.111+1136G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.115+26G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.463+26G>A
  variant of: http://identifiers.org/hgnc/13249
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12634
  bin: 2.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 7787
  bin: 3.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 4.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 4.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 10956
  bin: 2.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 11205
  bin: 3.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2468
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3538
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 4
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum

19-39224318-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39224318
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39224318
    reference: chr 19
allele count: 16
allele frequency: 1.338083529864352e-4
allele num: 119574
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1957+25C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1677+25C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.463+25C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.111+1135C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.521+25C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000601685
  gene symbol: CAPN12
  hgvsc: ENST00000601685.1:n.1995C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1510+25C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*68+25C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.115+25C>T
  variant of: http://identifiers.org/hgnc/13249
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11264
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7826
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12693
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

19-39224319-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39224319
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39224319
    reference: chr 19
allele count: 1
allele frequency: 8.361064196250898e-6
allele num: 119602
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.111+1134T>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1677+24T>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1510+24T>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*68+24T>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.521+24T>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.115+24T>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000601685
  gene symbol: CAPN12
  hgvsc: ENST00000601685.1:n.1994T>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.463+24T>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1957+24T>C
  variant of: http://identifiers.org/hgnc/13249
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7828
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11282
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12902
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3415
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

19-39224325-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39224325
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39224325
    reference: chr 19
allele count: 2
allele frequency: 1.670815859384137e-5
allele num: 119702
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.111+1128G>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1510+18G>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*68+18G>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1677+18G>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000601685
  gene symbol: CAPN12
  hgvsc: ENST00000601685.1:n.1988G>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.115+18G>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.521+18G>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1957+18G>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.463+18G>C
  variant of: http://identifiers.org/hgnc/13249
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7876
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3124
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6030
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3475
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-39224329-GACCCTGTCCAC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39224329
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39224318
    reference: chr 19
allele count: 3
allele frequency: 2.50400641025641e-5
allele num: 119808
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000601685
  gene symbol: CAPN12
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12973
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11563
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5112
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2537
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1957+3_1957+13delGTGGACAGGGT
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: GACCCTGTCCAC
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/19-39224331-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39224331
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39224331
    reference: chr 19
allele count: 2
allele frequency: 1.669031127430527e-5
allele num: 119830
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1677+12G>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*68+12G>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.463+12G>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.115+12G>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1510+12G>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000601685
  gene symbol: CAPN12
  hgvsc: ENST00000601685.1:n.1982G>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.521+12G>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.111+1122G>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1957+12G>T
  variant of: http://identifiers.org/hgnc/13249
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11576
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6068
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2537
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

19-39224336-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39224336
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39224337
    reference: chr 19
allele count: 427
allele frequency: 3.561004086398132e-3
allele num: 119910
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1510+6dupG
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.463+6dupG
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1957+6dupG
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.111+1116dupG
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1677+6dupG
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.115+6dupG
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000601685
  gene symbol: CAPN12
  hgvsc: ENST00000601685.1:n.1976dupG
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*68+6dupG
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.521+6dupG
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 4.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 5.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 11615
  bin: 3.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 5.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 10857
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 13044
  bin: 2.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 4.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7897
  bin: 3.75e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 6.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3624
  bin: 9.25e1
  variant carriers: 0
hgvs: c.1957+6dupG
num of homozygotes: 5
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/19-39224337-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39224337
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39224337
    reference: chr 19
allele count: 1
allele frequency: 8.399126490844953e-6
allele num: 119060
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.115+6G>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.463+6G>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000601685
  gene symbol: CAPN12
  hgvsc: ENST00000601685.1:n.1976G>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*68+6G>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1957+6G>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.521+6G>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1677+6G>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.111+1116G>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1510+6G>T
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7884
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12974
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6057
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
hgvs: c.1957+6G>T
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum

19-39224337-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39224337
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39224337
    reference: chr 19
allele count: 8
allele frequency: 6.719301192675962e-5
allele num: 119060
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.463+6G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1510+6G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.521+6G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1677+6G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.111+1116G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*68+6G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.115+6G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1957+6G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000601685
  gene symbol: CAPN12
  hgvsc: ENST00000601685.1:n.1976G>A
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13043
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 7.5e0
  variant carriers: 0
hgvs: c.1957+6G>A
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

19-39224345-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39224345
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39224345
    reference: chr 19
allele count: 1
allele frequency: 8.333750020834376e-6
allele num: 119994
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*66C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.519C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1955C>T
  hgvsp: ENSP00000331636.3:p.Ala652Val
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.113C>T
  hgvsp: ENSP00000470760.1:p.Ala38Val
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.111+1108C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1675C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000601685
  gene symbol: CAPN12
  hgvsc: ENST00000601685.1:n.1968C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.461C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1508C>T
  hgvsp: ENSP00000473156.1:p.Ala503Val
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10785
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13011
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala652Val
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

19-39224348-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39224348
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39224348
    reference: chr 19
allele count: 1
allele frequency: 8.332777814812346e-6
allele num: 120008
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1952C>T
  hgvsp: ENSP00000331636.3:p.Ala651Val
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1505C>T
  hgvsp: ENSP00000473156.1:p.Ala502Val
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*63C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1672C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.110C>T
  hgvsp: ENSP00000470760.1:p.Ala37Val
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000601685
  gene symbol: CAPN12
  hgvsc: ENST00000601685.1:n.1965C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.516C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.111+1105C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.458C>T
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10784
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4760
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6119
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala651Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

19-39224349-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39224349
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39224349
    reference: chr 19
allele count: 1
allele frequency: 8.331805835596807e-6
allele num: 120022
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000601685
  gene symbol: CAPN12
  hgvsc: ENST00000601685.1:n.1964G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1951G>A
  hgvsp: ENSP00000331636.3:p.Ala651Thr
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1671G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.109G>A
  hgvsp: ENSP00000470760.1:p.Ala37Thr
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.457G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*62G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1504G>A
  hgvsp: ENSP00000473156.1:p.Ala502Thr
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.515G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.111+1104G>A
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7927
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2570
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20976
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala651Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

19-39224350-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39224350
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39224350
    reference: chr 19
allele count: 2
allele frequency: 1.666250104140632e-5
allele num: 120030
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.108T>C
  hgvsp: ENST00000597987.1:c.108T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1503T>C
  hgvsp: ENST00000601953.1:c.1503T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.111+1103T>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.514T>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000601685
  gene symbol: CAPN12
  hgvsc: ENST00000601685.1:n.1963T>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1670T>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.456T>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1950T>C
  hgvsp: ENST00000328867.4:c.1950T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*61T>C
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7926
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6123
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4760
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn650Asn
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

19-39224357-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39224357
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39224357
    reference: chr 19
allele count: 2
allele frequency: 1.665778251599147e-5
allele num: 120064
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1943C>T
  hgvsp: ENSP00000331636.3:p.Ala648Val
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.449C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*54C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1496C>T
  hgvsp: ENSP00000473156.1:p.Ala499Val
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.101C>T
  hgvsp: ENSP00000470760.1:p.Ala34Val
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1663C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.507C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000601685
  gene symbol: CAPN12
  hgvsc: ENST00000601685.1:n.1956C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.111+1096C>T
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11744
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2576
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3576
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala648Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum

19-39224365-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39224365
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39224365
    reference: chr 19
allele count: 1
allele frequency: 8.326256015719971e-6
allele num: 120102
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1935G>A
  hgvsp: ENST00000328867.4:c.1935G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.441G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1655G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.93G>A
  hgvsp: ENST00000597987.1:c.93G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1488G>A
  hgvsp: ENST00000601953.1:c.1488G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.111+1088G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*46G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.499G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000601685
  gene symbol: CAPN12
  hgvsc: ENST00000601685.1:n.1948G>A
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13199
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10743
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13074
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu645Leu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

19-39224370-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39224370
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39224370
    reference: chr 19
allele count: 6
allele frequency: 4.99542086420781e-5
allele num: 120110
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1483G>A
  hgvsp: ENSP00000473156.1:p.Glu495Lys
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.494G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000601685
  gene symbol: CAPN12
  hgvsc: ENST00000601685.1:n.1943G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.111+1083G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*41G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1650G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.436G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1930G>A
  hgvsp: ENSP00000331636.3:p.Glu644Lys
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.88G>A
  hgvsp: ENSP00000470760.1:p.Glu30Lys
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7935
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11759
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5150
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4758
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13067
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20987
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu644Lys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

19-39224371-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39224371
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39224371
    reference: chr 19
allele count: 61
allele frequency: 5.078677878611273e-4
allele num: 120110
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.435C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1929C>T
  hgvsp: ENST00000328867.4:c.1929C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.87C>T
  hgvsp: ENST00000597987.1:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000601685
  gene symbol: CAPN12
  hgvsc: ENST00000601685.1:n.1942C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1482C>T
  hgvsp: ENST00000601953.1:c.1482C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*40C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.493C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1649C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.111+1082C>T
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5157
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7932
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11748
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13207
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10712
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2571
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Tyr643Tyr
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

19-39224371-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39224371
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39224371
    reference: chr 19
allele count: 5
allele frequency: 4.162850720173175e-5
allele num: 120110
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1649C>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.111+1082C>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*40C>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.435C>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.87C>A
  hgvsp: ENSP00000470760.1:p.Tyr29Ter
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1929C>A
  hgvsp: ENSP00000331636.3:p.Tyr643Ter
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1482C>A
  hgvsp: ENSP00000473156.1:p.Tyr494Ter
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.493C>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000601685
  gene symbol: CAPN12
  hgvsc: ENST00000601685.1:n.1942C>A
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3667
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13063
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2571
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Tyr643Ter
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-39224373-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39224373
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39224373
    reference: chr 19
allele count: 1
allele frequency: 8.325701440346349e-6
allele num: 120110
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1480T>G
  hgvsp: ENSP00000473156.1:p.Tyr494Asp
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*38T>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.491T>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1927T>G
  hgvsp: ENSP00000331636.3:p.Tyr643Asp
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1647T>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.111+1080T>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.85T>G
  hgvsp: ENSP00000470760.1:p.Tyr29Asp
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000601685
  gene symbol: CAPN12
  hgvsc: ENST00000601685.1:n.1940T>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.433T>G
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6133
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr643Asp
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-39224374-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39224374
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39224374
    reference: chr 19
allele count: 3
allele frequency: 2.497710432103905e-5
allele num: 120110
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*37C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.111+1079C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.432C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.490C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.84C>T
  hgvsp: ENST00000597987.1:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1646C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1479C>T
  hgvsp: ENST00000601953.1:c.1479C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1926C>T
  hgvsp: ENST00000328867.4:c.1926C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000601685
  gene symbol: CAPN12
  hgvsc: ENST00000601685.1:n.1939C>T
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser642Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

19-39224377-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39224377
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39224377
    reference: chr 19
allele count: 1
allele frequency: 8.325701440346349e-6
allele num: 120110
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.487C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1643C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*34C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1923C>T
  hgvsp: ENST00000328867.4:c.1923C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1476C>T
  hgvsp: ENST00000601953.1:c.1476C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000601685
  gene symbol: CAPN12
  hgvsc: ENST00000601685.1:n.1936C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.81C>T
  hgvsp: ENST00000597987.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.429C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.111+1076C>T
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7942
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21019
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13044
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn641Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/19-39224380-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39224380
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39224380
    reference: chr 19
allele count: 1
allele frequency: 8.325424180361989e-6
allele num: 120114
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1473G>T
  hgvsp: ENSP00000473156.1:p.Met491Ile
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.78G>T
  hgvsp: ENSP00000470760.1:p.Met26Ile
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000601685
  gene symbol: CAPN12
  hgvsc: ENST00000601685.1:n.1933G>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1920G>T
  hgvsp: ENSP00000331636.3:p.Met640Ile
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.484G>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*31G>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1640G>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.111+1073G>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.426G>T
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10651
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4752
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Met640Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

19-39224388-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39224388
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39224388
    reference: chr 19
allele count: 2
allele frequency: 1.665168015452759e-5
allele num: 120108
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1465G>A
  hgvsp: ENSP00000473156.1:p.Gly489Arg
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*23G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.418G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1632G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.476G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.111+1065G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1912G>A
  hgvsp: ENSP00000331636.3:p.Gly638Arg
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000601685
  gene symbol: CAPN12
  hgvsc: ENST00000601685.1:n.1925G>A
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.70G>A
  hgvsp: ENSP00000470760.1:p.Gly24Arg
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11756
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4753
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly638Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

19-39224388-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39224388
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39224386
    reference: chr 19
allele count: 1
allele frequency: 8.325840077263796e-6
allele num: 120108
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.416_417delCT
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000601685
  gene symbol: CAPN12
  hgvsc: ENST00000601685.1:n.1923_1924delCT
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1910_1911delCT
  hgvsp: ENSP00000331636.3:p.Ser637TrpfsTer34
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.111+1063_111+1064delCT
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.68_69delCT
  hgvsp: ENSP00000470760.1:p.Ser23TrpfsTer34
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1630_1631delCT
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1463_1464delCT
  hgvsp: ENSP00000473156.1:p.Ser488TrpfsTer34
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.474_475delCT
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*21_*22delCT
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3563
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21032
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser637TrpfsTer34
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: CAG
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/19-39224389-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39224389
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39224389
    reference: chr 19
allele count: 1
allele frequency: 8.325840077263796e-6
allele num: 120108
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*22T>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.111+1064T>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1464T>G
  hgvsp: ENST00000601953.1:c.1464T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.69T>G
  hgvsp: ENST00000597987.1:c.69T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1911T>G
  hgvsp: ENST00000328867.4:c.1911T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.417T>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.475T>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1631T>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000601685
  gene symbol: CAPN12
  hgvsc: ENST00000601685.1:n.1924T>G
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5085
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6120
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser637Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-39224390-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39224390
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39224391
    reference: chr 19
allele count: 7
allele frequency: 5.828185103158876e-5
allele num: 120106
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.415dupT
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.67dupT
  hgvsp: ENSP00000470760.1:p.Ser23PhefsTer35
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000601685
  gene symbol: CAPN12
  hgvsc: ENST00000601685.1:n.1922dupT
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.111+1062dupT
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1462dupT
  hgvsp: ENSP00000473156.1:p.Ser488PhefsTer35
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1909dupT
  hgvsp: ENSP00000331636.3:p.Ser637PhefsTer35
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1629dupT
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.473dupT
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*20dupT
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7948
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13245
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser637PhefsTer35
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

19-39224395-GTCC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39224395
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39224392
    reference: chr 19
allele count: 6
allele frequency: 4.995587231279037e-5
allele num: 120106
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*13_*15delGGA
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1455_1457delGGA
  hgvsp: ENSP00000473156.1:p.Glu485del
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1902_1904delGGA
  hgvsp: ENSP00000331636.3:p.Glu634del
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.111+1055_111+1057delGGA
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.60_62delGGA
  hgvsp: ENSP00000470760.1:p.Glu20del
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.466_468delGGA
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1622_1624delGGA
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.408_410delGGA
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000601685
  gene symbol: CAPN12
  hgvsc: ENST00000601685.1:n.1915_1917delGGA
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7950
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5092
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6109
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu634del
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: GTCC
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

19-39224401-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39224401
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39224401
    reference: chr 19
allele count: 3
allele frequency: 2.498001598721023e-5
allele num: 120096
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.463T>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*10T>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.405T>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1452T>C
  hgvsp: ENST00000601953.1:c.1452T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1619T>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.111+1052T>C
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.57T>C
  hgvsp: ENST00000597987.1:c.57T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1899T>C
  hgvsp: ENST00000328867.4:c.1899T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000601685
  gene symbol: CAPN12
  hgvsc: ENST00000601685.1:n.1912T>C
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13199
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7948
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4751
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp633Asp
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD

19-39224404-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39224404
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39224404
    reference: chr 19
allele count: 5
allele frequency: 4.1637520402385e-5
allele num: 120084
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1616C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.54C>T
  hgvsp: ENST00000597987.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.111+1049C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*7C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.460C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1896C>T
  hgvsp: ENST00000328867.4:c.1896C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1449C>T
  hgvsp: ENST00000601953.1:c.1449C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000601685
  gene symbol: CAPN12
  hgvsc: ENST00000601685.1:n.1909C>T
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.402C>T
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13176
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7950
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4750
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Phe632Phe
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

19-39224404-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39224404
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39224404
    reference: chr 19
allele count: 1
allele frequency: 8.327504080476999e-6
allele num: 120084
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000470760
  ensembl transcript: ENST00000597987
  gene symbol: CAPN12
  hgvsc: ENST00000597987.1:c.54C>G
  hgvsp: ENSP00000470760.1:p.Phe18Leu
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597354
  gene symbol: CAPN12
  hgvsc: ENST00000597354.1:n.402C>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000471007
  ensembl transcript: ENST00000595177
  gene symbol: CAPN12
  hgvsc: ENST00000595177.1:c.111+1049C>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000593700
  gene symbol: CAPN12
  hgvsc: ENST00000593700.1:n.460C>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000331636
  ensembl transcript: ENST00000328867
  gene symbol: CAPN12
  hgvsc: ENST00000328867.4:c.1896C>G
  hgvsp: ENSP00000331636.3:p.Phe632Leu
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000469217
  ensembl transcript: ENST00000594552
  gene symbol: CAPN12
  hgvsc: ENST00000594552.1:c.*7C>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182472
  ensembl protein: ENSP00000473156
  ensembl transcript: ENST00000601953
  gene symbol: CAPN12
  hgvsc: ENST00000601953.1:c.1449C>G
  hgvsp: ENSP00000473156.1:p.Phe483Leu
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000597716
  gene symbol: CAPN12
  hgvsc: ENST00000597716.1:n.1616C>G
  variant of: http://identifiers.org/hgnc/13249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182472
  ensembl transcript: ENST00000601685
  gene symbol: CAPN12
  hgvsc: ENST00000601685.1:n.1909C>G
  variant of: http://identifiers.org/hgnc/13249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7950
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13176
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4750
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Phe632Leu
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

GenotypeQuality
all individuals: 1687
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 791
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 770
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7059
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 982
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35524
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2897
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1768
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 892
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 753
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2659
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1623
bin: 9.75e1
variant carriers: 172

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.894174422612892e-4
allele num: 5802
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.701457451810061e-4
allele num: 8508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 146
allele frequency: 2.2599919507136e-3
allele num: 64602
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.067861087249969e-4
allele num: 16298
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.187648456057007e-3
allele num: 842
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.012882447665056e-4
allele num: 9936
num of homozygotes: 0

Latino
type: Population
allele count: 10
allele frequency: 8.796622097114708e-4
allele num: 11368
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.534042e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

MQRankSum
type: SiteQuality
SIO_000300: 4.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

MQ
type: SiteQuality
SIO_000300: 5.924e1

FS
type: SiteQuality
SIO_000300: 1.113e0

QD
type: SiteQuality
SIO_000300: 1.289e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

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

GenotypeQuality
all individuals: 111
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36419
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 753
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2927
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 805
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7157
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1792
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1724
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 739
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1486
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 158
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2680
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545929567448907e-5
allele num: 64686
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5824
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9970
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16312
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

VQSLOD
type: SiteQuality
SIO_000300: -1.843e-1

MQ
type: SiteQuality
SIO_000300: 5.895e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.435e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.339e0

QD
type: SiteQuality
SIO_000300: 1.472e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

DP
type: SiteQuality
SIO_000300: 1.532694e6

GenotypeQuality
all individuals: 1735
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2685
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36980
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7223
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1489
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 457
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 761
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2940
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 745
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 806
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5854
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.543829314231019e-5
allele num: 64774
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16328
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9996
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.85e1

MQ
type: SiteQuality
SIO_000300: 5.638e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.743e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.26e-1

FS
type: SiteQuality
SIO_000300: 2.884e0

VQSLOD
type: SiteQuality
SIO_000300: -7.349e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

DP
type: SiteQuality
SIO_000300: 1.534962e6

GenotypeQuality
all individuals: 764
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37081
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7252
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1739
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2947
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2689
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 738
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1492
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1799
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9996
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.543591010125957e-5
allele num: 64784
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16332
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5860
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

MQ
type: SiteQuality
SIO_000300: 5.061e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.117e0

MQRankSum
type: SiteQuality
SIO_000300: 6.81e-1

DP
type: SiteQuality
SIO_000300: 1.535694e6

FS
type: SiteQuality
SIO_000300: 3.7755e1

QD
type: SiteQuality
SIO_000300: 8.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.12e0

VQSLOD
type: SiteQuality
SIO_000300: -5.949e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.23e-1

GenotypeQuality
all individuals: 1878
bin: 2.25e1
variant carriers: 291

GenotypeQuality
all individuals: 1487
bin: 2.75e1
variant carriers: 283

GenotypeQuality
all individuals: 8625
bin: 2.5e0
variant carriers: 188

GenotypeQuality
all individuals: 1519
bin: 3.75e1
variant carriers: 276

GenotypeQuality
all individuals: 1563
bin: 7.25e1
variant carriers: 172

GenotypeQuality
all individuals: 1584
bin: 7.75e1
variant carriers: 153

GenotypeQuality
all individuals: 1468
bin: 5.75e1
variant carriers: 215

GenotypeQuality
all individuals: 20003
bin: 6.25e1
variant carriers: 211

GenotypeQuality
all individuals: 3884
bin: 6.75e1
variant carriers: 214

GenotypeQuality
all individuals: 1037
bin: 8.25e1
variant carriers: 144

GenotypeQuality
all individuals: 1518
bin: 5.25e1
variant carriers: 221

GenotypeQuality
all individuals: 1493
bin: 4.25e1
variant carriers: 259

GenotypeQuality
all individuals: 1422
bin: 1.25e1
variant carriers: 254

GenotypeQuality
all individuals: 1536
bin: 3.25e1
variant carriers: 254

GenotypeQuality
all individuals: 1555
bin: 4.75e1
variant carriers: 240

GenotypeQuality
all individuals: 607
bin: 9.25e1
variant carriers: 128

GenotypeQuality
all individuals: 576
bin: 8.75e1
variant carriers: 149

GenotypeQuality
all individuals: 5611
bin: 9.75e1
variant carriers: 4483

East Asian
type: Population
allele count: 690
allele frequency: 1.048313582497721e-1
allele num: 6582
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 776
allele frequency: 2.055084745762712e-1
allele num: 3776
num of homozygotes: 0

African
type: Population
allele count: 1104
allele frequency: 1.552305961754781e-1
allele num: 7112
num of homozygotes: 0

Latino
type: Population
allele count: 907
allele frequency: 1.114798426745329e-1
allele num: 8136
num of homozygotes: 0

Other
type: Population
allele count: 64
allele frequency: 9.3841642228739e-2
allele num: 682
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3942
allele frequency: 7.50171271979904e-2
allele num: 52548
num of homozygotes: 0

South Asian
type: Population
allele count: 193
allele frequency: 1.28052016985138e-2
allele num: 15072
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.396e2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.45e0

DP
type: SiteQuality
SIO_000300: 1.925737e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.172e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.261e-1

FS
type: SiteQuality
SIO_000300: 2.74463e2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.135e0

QD
type: SiteQuality
SIO_000300: 5.04e0

MQ
type: SiteQuality
SIO_000300: 5.8e1

GenotypeQuality
all individuals: 154
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1256
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27310
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 660
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 660
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1920
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1413
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7546
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3213
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6456
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 391
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3863
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.74737578726382e-5
allele num: 11432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.541734759951898e-5
allele num: 64862
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16368
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.182e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.031e0

DP
type: SiteQuality
SIO_000300: 1.815602e6

VQSLOD
type: SiteQuality
SIO_000300: -2.056e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.87e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.19e0

GenotypeQuality
all individuals: 1649
bin: 9.25e1
variant carriers: 11

GenotypeQuality
all individuals: 478
bin: 3.75e1
variant carriers: 5

GenotypeQuality
all individuals: 343
bin: 5.75e1
variant carriers: 4

GenotypeQuality
all individuals: 239
bin: 1.75e1
variant carriers: 5

GenotypeQuality
all individuals: 2990
bin: 7.25e1
variant carriers: 7

GenotypeQuality
all individuals: 1161
bin: 2.25e1
variant carriers: 5

GenotypeQuality
all individuals: 201
bin: 1.25e1
variant carriers: 4

GenotypeQuality
all individuals: 3485
bin: 7.75e1
variant carriers: 5

GenotypeQuality
all individuals: 493
bin: 2.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1295
bin: 2.5e0
variant carriers: 4

GenotypeQuality
all individuals: 342
bin: 4.25e1
variant carriers: 6

GenotypeQuality
all individuals: 26994
bin: 6.25e1
variant carriers: 4

GenotypeQuality
all individuals: 7080
bin: 6.75e1
variant carriers: 5

GenotypeQuality
all individuals: 519
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 429
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 417
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2555
bin: 8.25e1
variant carriers: 6

GenotypeQuality
all individuals: 8098
bin: 9.75e1
variant carriers: 3039

South Asian
type: Population
allele count: 23
allele frequency: 1.405867970660147e-3
allele num: 16360
num of homozygotes: 0

Other
type: Population
allele count: 38
allele frequency: 4.589371980676329e-2
allele num: 828
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 551
allele frequency: 9.509837763203313e-2
allele num: 5794
num of homozygotes: 0

East Asian
type: Population
allele count: 78
allele frequency: 9.226401703335699e-3
allele num: 8454
num of homozygotes: 0

African
type: Population
allele count: 529
allele frequency: 5.568421052631579e-2
allele num: 9500
num of homozygotes: 0

Latino
type: Population
allele count: 68
allele frequency: 6.01237842617153e-3
allele num: 11310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1817
allele frequency: 2.881565592489216e-2
allele num: 63056
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.685e1

VQSLOD
type: SiteQuality
SIO_000300: -8.955e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.062e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.508e0

FS
type: SiteQuality
SIO_000300: 3.05801e2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.45e0

DP
type: SiteQuality
SIO_000300: 1.77575e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.52e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.11e-1

QD
type: SiteQuality
SIO_000300: 1.101e1

GenotypeQuality
all individuals: 239
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26994
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.585891905607714e-5
allele num: 63056
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5794
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16360
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.101e1

VQSLOD
type: SiteQuality
SIO_000300: -8.955e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.52e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.508e0

MQRankSum
type: SiteQuality
SIO_000300: -4.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.062e0

MQ
type: SiteQuality
SIO_000300: 5.685e1

FS
type: SiteQuality
SIO_000300: 3.05801e2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.45e0

DP
type: SiteQuality
SIO_000300: 1.77575e6

GenotypeQuality
all individuals: 680
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variant carriers: 0

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

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: 10002
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6194
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64728
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.221001221001221e-4
allele num: 16380
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.113e1

VQSLOD
type: SiteQuality
SIO_000300: 5.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.49e-1

DP
type: SiteQuality
SIO_000300: 1.738642e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 16

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 1.2e-3
allele num: 10000
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.149425287356322e-3
allele num: 870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.180851721367204e-5
allele num: 64716
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.148e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.773e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -7.869e0

QD
type: SiteQuality
SIO_000300: 8.01e0

MQRankSum
type: SiteQuality
SIO_000300: -1.68e0

FS
type: SiteQuality
SIO_000300: 8.760899999999999e1

DP
type: SiteQuality
SIO_000300: 1.738238e6

MQ
type: SiteQuality
SIO_000300: 5.682e1

GenotypeQuality
all individuals: 1239
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 12

GenotypeQuality
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variant carriers: 15

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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variant carriers: 93

GenotypeQuality
all individuals: 2689
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variant carriers: 10

GenotypeQuality
all individuals: 1994
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variant carriers: 7

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

Latino
type: Population
allele count: 44
allele frequency: 4.057543341940244e-3
allele num: 10844
num of homozygotes: 0

African
type: Population
allele count: 33
allele frequency: 3.426791277258567e-3
allele num: 9630
num of homozygotes: 0

South Asian
type: Population
allele count: 16
allele frequency: 9.881422924901185e-4
allele num: 16192
num of homozygotes: 0

East Asian
type: Population
allele count: 33
allele frequency: 4.046101029916625e-3
allele num: 8156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 89
allele frequency: 1.413595933926302e-3
allele num: 62960
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 17
allele frequency: 3.441295546558705e-3
allele num: 4940
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.695081e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.200000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: -8.188e1

FS
type: SiteQuality
SIO_000300: 1.32756e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e-2

QD
type: SiteQuality
SIO_000300: 1.39e0

MQ
type: SiteQuality
SIO_000300: 5.908e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.918e0

GenotypeQuality
all individuals: 563
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
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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: 866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64674
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6136
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.986019572598362e-5
allele num: 10014
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.923e1

DP
type: SiteQuality
SIO_000300: 1.687908e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.094e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.74e-1

QD
type: SiteQuality
SIO_000300: 3.099e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.667e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10010
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.172332942555686e-4
allele num: 8530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64698
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.762705923589205e-5
allele num: 11412
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.108e1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.889e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.548610896026264e-5
allele num: 64574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.552397868561279e-4
allele num: 5630
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10006
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East Asian
type: Population
allele count: 1
allele frequency: 1.174536058256989e-4
allele num: 8514
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QD
type: SiteQuality
SIO_000300: 1.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.42e-1

FS
type: SiteQuality
SIO_000300: 1.02461e2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.686733e6

MQ
type: SiteQuality
SIO_000300: 5.861e1

MQRankSum
type: SiteQuality
SIO_000300: -5.1e-2

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.87e-1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64674
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.984025559105431e-5
allele num: 10016
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6040
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ReadPosRankSum
type: SiteQuality
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DP
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VQSLOD
type: SiteQuality
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ClippingRankSum
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 4.895e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQRankSum
type: SiteQuality
SIO_000300: -4.748e0

GenotypeQuality
all individuals: 32561
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2386
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4051
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6102
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10008
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.546264225630876e-5
allele num: 64672
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16408
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.690167e6

VQSLOD
type: SiteQuality
SIO_000300: -2.11e-2

FS
type: SiteQuality
SIO_000300: 2.699e0

MQ
type: SiteQuality
SIO_000300: 5.904e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.0e-1

QD
type: SiteQuality
SIO_000300: 1.154e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.377e0

GenotypeQuality
all individuals: 313
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3203
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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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: 475
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GenotypeQuality
all individuals: 1420
bin: 9.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6110
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64650
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.092360180333861e-5
allele num: 16414
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.756e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.21e-1

FS
type: SiteQuality
SIO_000300: 3.741e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.93e-1

QD
type: SiteQuality
SIO_000300: 2.911e1

MQ
type: SiteQuality
SIO_000300: 5.956e1

DP
type: SiteQuality
SIO_000300: 1.690635e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e-1

GenotypeQuality
all individuals: 441
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

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: 407
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variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.638792676892627e-5
allele num: 64672
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6096
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.22e-1

FS
type: SiteQuality
SIO_000300: 1.706e0

VQSLOD
type: SiteQuality
SIO_000300: 7.61e-1

QD
type: SiteQuality
SIO_000300: 1.271e1

MQ
type: SiteQuality
SIO_000300: 5.958e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.691895e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-1

GenotypeQuality
all individuals: 3575
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8195
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variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.218323586744639e-4
allele num: 16416
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.750437521876094e-5
allele num: 11428
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64660
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10018
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6096
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.839e1

MQRankSum
type: SiteQuality
SIO_000300: 1.79e0

VQSLOD
type: SiteQuality
SIO_000300: -1.671e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.468e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

FS
type: SiteQuality
SIO_000300: 8.192e0

QD
type: SiteQuality
SIO_000300: 1.206e1

DP
type: SiteQuality
SIO_000300: 1.692243e6

GenotypeQuality
all individuals: 54
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variant carriers: 0

GenotypeQuality
all individuals: 79
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 85
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1158
bin: 8.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6088
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64664
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.786e0

VQSLOD
type: SiteQuality
SIO_000300: -7.796e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 1.189e0

QD
type: SiteQuality
SIO_000300: 1.394e1

MQRankSum
type: SiteQuality
SIO_000300: -1.057e0

DP
type: SiteQuality
SIO_000300: 1.692038e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10030
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.751927119831815e-4
allele num: 11416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.093867953715735e-5
allele num: 64644
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.34796900680911e-4
allele num: 8518
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.827485380116959e-4
allele num: 16416
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-1

DP
type: SiteQuality
SIO_000300: 1.69107e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.81e-1

FS
type: SiteQuality
SIO_000300: 5.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.051e0

QD
type: SiteQuality
SIO_000300: 2.018e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.681e-1

MQ
type: SiteQuality
SIO_000300: 5.913e1

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.761170492377782e-5
allele num: 11414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6010
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10032
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64620
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.59e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.689342e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.93e-1

MQ
type: SiteQuality
SIO_000300: 5.871e1

FS
type: SiteQuality
SIO_000300: 6.526e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.37e-1

QD
type: SiteQuality
SIO_000300: 4.38e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 105
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GenotypeQuality
all individuals: 8067
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16408
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.548275221403357e-5
allele num: 64588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10028
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.995e0

DP
type: SiteQuality
SIO_000300: 1.687637e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.5e-1

QD
type: SiteQuality
SIO_000300: 1.074e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.711e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.377e0

FS
type: SiteQuality
SIO_000300: 1.5e0

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

MQ
type: SiteQuality
SIO_000300: 5.715e1

GenotypeQuality
all individuals: 58
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32271
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1411
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8008
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variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
all individuals: 1977
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3487
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1142
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5966
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10030
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.097560975609756e-4
allele num: 16400
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.944e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.362e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.96e-1

DP
type: SiteQuality
SIO_000300: 1.683204e6

MQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

FS
type: SiteQuality
SIO_000300: 2.939e0

QD
type: SiteQuality
SIO_000300: 1.655e1

GenotypeQuality
all individuals: 881
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 7.5e0
variant carriers: 0

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: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1138
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.100871344847902e-5
allele num: 64498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10004
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5924
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16392
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.855e1

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.164e0

FS
type: SiteQuality
SIO_000300: 1.346e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.457e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.82e-1

QD
type: SiteQuality
SIO_000300: 8.48e0

DP
type: SiteQuality
SIO_000300: 1.673228e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

GenotypeQuality
all individuals: 866
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3380
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 130
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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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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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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1402
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2306
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9998
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

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

East Asian
type: Population
allele count: 4
allele frequency: 4.710315591144607e-4
allele num: 8492
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64468
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5900
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.994e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

DP
type: SiteQuality
SIO_000300: 1.660098e6

MQRankSum
type: SiteQuality
SIO_000300: 8.19e-1

QD
type: SiteQuality
SIO_000300: 1.025e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.4e-1

FS
type: SiteQuality
SIO_000300: 1.312e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.87e-1

MQ
type: SiteQuality
SIO_000300: 5.829e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.66e-1

GenotypeQuality
all individuals: 118
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4019
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 631
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 405
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variant carriers: 0

GenotypeQuality
all individuals: 1396
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variant carriers: 0

GenotypeQuality
all individuals: 1781
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variant carriers: 0

GenotypeQuality
all individuals: 523
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variant carriers: 0

GenotypeQuality
all individuals: 64
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variant carriers: 0

GenotypeQuality
all individuals: 139
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variant carriers: 0

GenotypeQuality
all individuals: 2571
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 444
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GenotypeQuality
all individuals: 2278
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variant carriers: 0

GenotypeQuality
all individuals: 1126
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variant carriers: 0

GenotypeQuality
all individuals: 1537
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7242
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28337
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2896
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.781173164734808e-5
allele num: 11388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9980
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5872
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64394
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.79e-1

MQ
type: SiteQuality
SIO_000300: 5.858e1

MQRankSum
type: SiteQuality
SIO_000300: 1.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.17e-1

DP
type: SiteQuality
SIO_000300: 1.639456e6

QD
type: SiteQuality
SIO_000300: 7.02e0

GenotypeQuality
all individuals: 28337
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7242
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1088
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variant carriers: 0

GenotypeQuality
all individuals: 139
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variant carriers: 0

GenotypeQuality
all individuals: 2571
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variant carriers: 0

GenotypeQuality
all individuals: 2278
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variant carriers: 0

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: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1537
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11388
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.111722283339445e-5
allele num: 16362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64394
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9980
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5872
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQ
type: SiteQuality
SIO_000300: 5.858e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.7e0

DP
type: SiteQuality
SIO_000300: 1.639456e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.17e-1

QD
type: SiteQuality
SIO_000300: 7.02e0

GenotypeQuality
all individuals: 2572
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 4015
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1116
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5842
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.554678026180778e-5
allele num: 64322
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11368
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9962
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.74e-1

FS
type: SiteQuality
SIO_000300: 1.435e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

DP
type: SiteQuality
SIO_000300: 1.622075e6

MQ
type: SiteQuality
SIO_000300: 5.809e1

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-1

QD
type: SiteQuality
SIO_000300: 1.106e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.413e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.52e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 541
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variant carriers: 0

GenotypeQuality
all individuals: 2535
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.556614053111671e-5
allele num: 64242
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5844
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9968
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16334
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.87e-1

FS
type: SiteQuality
SIO_000300: 7.84e-1

DP
type: SiteQuality
SIO_000300: 1.617455e6

VQSLOD
type: SiteQuality
SIO_000300: -1.232e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.1e-1

MQ
type: SiteQuality
SIO_000300: 5.833e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.674e0

MQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

QD
type: SiteQuality
SIO_000300: 1.312e1

GenotypeQuality
all individuals: 223
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2766
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2021
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GenotypeQuality
all individuals: 3136
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GenotypeQuality
all individuals: 3213
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variant carriers: 0

GenotypeQuality
all individuals: 100
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GenotypeQuality
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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: 4011
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variant carriers: 3

GenotypeQuality
all individuals: 1385
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.006036217303823e-4
allele num: 9940
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16294
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5778
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.119151590767312e-5
allele num: 64120
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.606015e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.71e-1

FS
type: SiteQuality
SIO_000300: 2.502e0

QD
type: SiteQuality
SIO_000300: 3.25e0

MQRankSum
type: SiteQuality
SIO_000300: -1.759e0

MQ
type: SiteQuality
SIO_000300: 5.1e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e-1

GenotypeQuality
all individuals: 2750
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1289
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2256
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4230
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2070
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3978
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2465
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3165
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6201
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4010
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1387
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17911
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3213
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16290
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5784
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.561182752052955e-5
allele num: 64054
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9922
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.03e-1

DP
type: SiteQuality
SIO_000300: 1.607079e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.182e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -8.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.89e-1

GenotypeQuality
all individuals: 922
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 846
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7948
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1986
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4183
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1171
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3108
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20494
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 2301
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.688722404740704e-4
allele num: 65138
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16144
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10242
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.214e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.26e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.191352e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.91e0

MQRankSum
type: SiteQuality
SIO_000300: -1.6e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.02e-1

GenotypeQuality
all individuals: 112
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3133
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1425
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1134
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2319
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4209
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5467
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4470
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3407
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16172
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.06767286336585e-5
allele num: 65196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10244
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.236e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.194792e6

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-1

FS
type: SiteQuality
SIO_000300: 4.914e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

VQSLOD
type: SiteQuality
SIO_000300: 4.47e-1

GenotypeQuality
all individuals: 1090
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1037
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1430
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3408
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 473
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3153
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5480
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9660
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4506
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4233
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533742331288344e-5
allele num: 65200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16192
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.198036e6

VQSLOD
type: SiteQuality
SIO_000300: 4.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.534e1

GenotypeQuality
all individuals: 93
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1037
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20498
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1430
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5480
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1090
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3153
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4233
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2330
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3408
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4506
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.523461304082876e-4
allele num: 6564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65200
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16192
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.42e0

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.77e-1

DP
type: SiteQuality
SIO_000300: 2.198036e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.534e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

GenotypeQuality
all individuals: 377
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5647
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11400
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2379
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 910
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3211
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4584
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3442
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533177971298908e-5
allele num: 65224
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16236
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.01e-1

DP
type: SiteQuality
SIO_000300: 2.213187e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.94e0

QD
type: SiteQuality
SIO_000300: 1.494e1

GenotypeQuality
all individuals: 4603
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4341
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3222
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11448
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158480074142725e-4
allele num: 8632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65240
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16200
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.916e0

MQRankSum
type: SiteQuality
SIO_000300: 2.76e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.113e0

VQSLOD
type: SiteQuality
SIO_000300: -2.778e0

FS
type: SiteQuality
SIO_000300: 1.763e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 8.17e0

DP
type: SiteQuality
SIO_000300: 2.218125e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e0

GenotypeQuality
all individuals: 386
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4689
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2430
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20568
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 646
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3475
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4402
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3301
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16252
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.752291788570315e-5
allele num: 10254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.597842079450711e-5
allele num: 65248
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.445e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.924e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

DP
type: SiteQuality
SIO_000300: 2.226e6

FS
type: SiteQuality
SIO_000300: 4.243e0

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

GenotypeQuality
all individuals: 3358
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4520
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20959
bin: 9.75e1
variant carriers: 363

GenotypeQuality
all individuals: 377
bin: 3.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 314
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5857
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12567
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 178
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 4788
bin: 7.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

Latino
type: Population
allele count: 18
allele frequency: 1.561415683553088e-3
allele num: 11528
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.750390015600624e-5
allele num: 10256
num of homozygotes: 0

South Asian
type: Population
allele count: 271
allele frequency: 1.661761098847192e-2
allele num: 16308
num of homozygotes: 3

Other
type: Population
allele count: 7
allele frequency: 7.918552036199095e-3
allele num: 884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 75
allele frequency: 1.14801775600796e-3
allele num: 65330
num of homozygotes: 1

FS
type: SiteQuality
SIO_000300: 3.578e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.64e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.328e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.16e-2

QD
type: SiteQuality
SIO_000300: 1.198e1

DP
type: SiteQuality
SIO_000300: 2.246483e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e-1

GenotypeQuality
all individuals: 3391
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5947
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20684
bin: 9.75e1
variant carriers: 16

GenotypeQuality
all individuals: 2491
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4853
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4570
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12768
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3576
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16348
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.530175052025952e-5
allele num: 65352
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

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

African
type: Population
allele count: 15
allele frequency: 1.462558502340094e-3
allele num: 10256
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.949e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-2

FS
type: SiteQuality
SIO_000300: 7.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

MQRankSum
type: SiteQuality
SIO_000300: 6.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e-1

QD
type: SiteQuality
SIO_000300: 1.339e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

DP
type: SiteQuality
SIO_000300: 2.250301e6

GenotypeQuality
all individuals: 93
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 4.25e1
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GenotypeQuality
all individuals: 20691
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variant carriers: 1

GenotypeQuality
all individuals: 53
bin: 2.5e0
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GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4580
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variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6006
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variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4891
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2504
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3586
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65368
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16358
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.251425e6

QD
type: SiteQuality
SIO_000300: 1.434e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQ
type: SiteQuality
SIO_000300: 5.889e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.454e0

FS
type: SiteQuality
SIO_000300: 1.188e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

GenotypeQuality
all individuals: 41
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12962
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4962
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variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 401
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variant carriers: 0

GenotypeQuality
all individuals: 3611
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2523
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20722
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4650
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.73460537727667e-4
allele num: 11530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65422
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.952e1

QD
type: SiteQuality
SIO_000300: 1.037e1

VQSLOD
type: SiteQuality
SIO_000300: -1.532e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.695e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 2.174e0

DP
type: SiteQuality
SIO_000300: 2.259949e6

MQRankSum
type: SiteQuality
SIO_000300: 2.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.54e-1

GenotypeQuality
all individuals: 72
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5011
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3630
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
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variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20735
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 13056
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variant carriers: 0

GenotypeQuality
all individuals: 70
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variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 48
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variant carriers: 0

GenotypeQuality
all individuals: 3508
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4679
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6065
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.826372823572385e-4
allele num: 16426
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65490
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.809e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 9.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.263794e6

MQ
type: SiteQuality
SIO_000300: 5.616e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.64e-1

QD
type: SiteQuality
SIO_000300: 3.99e0

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20736
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3632
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3510
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13108
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4689
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5017
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.217285453438831e-4
allele num: 16430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65500
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.89e0

QD
type: SiteQuality
SIO_000300: 1.537e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.813e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

DP
type: SiteQuality
SIO_000300: 2.265253e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 80
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12987
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 305
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6059
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3518
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5018
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4694
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2544
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21132
bin: 9.75e1
variant carriers: 421

Latino
type: Population
allele count: 2
allele frequency: 1.733402669440111e-4
allele num: 11538
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.051944088384301e-5
allele num: 65532
num of homozygotes: 0

East Asian
type: Population
allele count: 74
allele frequency: 8.572752548656163e-3
allele num: 8632
num of homozygotes: 1

South Asian
type: Population
allele count: 346
allele frequency: 2.101299647759019e-2
allele num: 16466
num of homozygotes: 4

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.378378378378379e-3
allele num: 888
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.19e0

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

DP
type: SiteQuality
SIO_000300: 2.273341e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-2

FS
type: SiteQuality
SIO_000300: 1.225e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

QD
type: SiteQuality
SIO_000300: 1.33e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.47e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3523
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 20719
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 303
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4693
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2544
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3624
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5021
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 3.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526204938799182e-5
allele num: 65522
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15782
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.970000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 3.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

FS
type: SiteQuality
SIO_000300: 1.913e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.68e-1

DP
type: SiteQuality
SIO_000300: 2.274961e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.724e0

GenotypeQuality
all individuals: 2544
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 71
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4693
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3523
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12974
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20719
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 3624
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6057
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5021
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15782
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.068343457159427e-4
allele num: 65522
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.670019074041963e-5
allele num: 11534
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.724e0

DP
type: SiteQuality
SIO_000300: 2.274961e6

QD
type: SiteQuality
SIO_000300: 8.970000000000001e0

FS
type: SiteQuality
SIO_000300: 1.913e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.85e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

GenotypeQuality
all individuals: 3664
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2567
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4753
bin: 8.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65574
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.665511265164645e-5
allele num: 11540
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.798e0

MQ
type: SiteQuality
SIO_000300: 5.866e1

MQRankSum
type: SiteQuality
SIO_000300: -1.4e-2

QD
type: SiteQuality
SIO_000300: 4.46e0

DP
type: SiteQuality
SIO_000300: 2.275334e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.59e-1

FS
type: SiteQuality
SIO_000300: 5.622e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.15e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.483e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
all individuals: 45
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3569
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.425e0

QD
type: SiteQuality
SIO_000300: 1.034e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.77e0

MQRankSum
type: SiteQuality
SIO_000300: 2.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.979e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.27596e6

GenotypeQuality
all individuals: 5066
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 3671
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 9.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.221e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 2.276226e6

VQSLOD
type: SiteQuality
SIO_000300: 3.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.78e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-2

QD
type: SiteQuality
SIO_000300: 1.401e1

GenotypeQuality
all individuals: 2572
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
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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: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.048873441263453e-5
allele num: 65598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -3.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.6e-2

FS
type: SiteQuality
SIO_000300: 6.870000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.13e-1

QD
type: SiteQuality
SIO_000300: 1.109e1

VQSLOD
type: SiteQuality
SIO_000300: 3.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

DP
type: SiteQuality
SIO_000300: 2.276345e6

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523879186858066e-5
allele num: 65622
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.8e-2

QD
type: SiteQuality
SIO_000300: 1.374e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.706e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.277097e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.07e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.24e-1

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65662
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.72951936174353e-5
allele num: 10278
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.188e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.804e0

QD
type: SiteQuality
SIO_000300: 1.434e1

DP
type: SiteQuality
SIO_000300: 2.277697e6

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65662
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.635482307319437e-4
allele num: 16504
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.72e-1

DP
type: SiteQuality
SIO_000300: 2.278068e6

QD
type: SiteQuality
SIO_000300: 1.045e1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 1.946282600233554e-4
allele num: 10276
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.197505197505198e-4
allele num: 11544
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.123595505617978e-3
allele num: 890
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.817741153659719e-4
allele num: 16504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.516530178950561e-4
allele num: 6594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 48
allele frequency: 7.309941520467836e-4
allele num: 65664
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.175e1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.19e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: 2.97e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.4e-1

DP
type: SiteQuality
SIO_000300: 2.280196e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 19
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GenotypeQuality
all individuals: 35
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7.75e1
variant carriers: 0

Latino
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allele count: 5
allele frequency: 4.331254331254331e-4
allele num: 11544
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65664
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 5.19e-1

VQSLOD
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DP
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SIO_000300: 2.280196e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.08e-1

MQRankSum
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SIO_000300: 3.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

QD
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SIO_000300: 1.175e1

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.4e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522950869604947e-5
allele num: 65662
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 8.86e-1

InbreedingCoeff
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SIO_000300: -5.999999999999999e-4

QD
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SIO_000300: 1.376e1

DP
type: SiteQuality
SIO_000300: 2.279219e6

ClippingRankSum
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SIO_000300: 1.97e0

MQRankSum
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SIO_000300: -1.948e0

MQ
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SIO_000300: 5.95e1

VQSLOD
type: SiteQuality
SIO_000300: -8.556e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

ReadPosRankSum
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SIO_000300: 7.099999999999999e-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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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
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: 3
allele frequency: 4.568713450292397e-5
allele num: 65664
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 3.816e0

MQRankSum
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SIO_000300: -5.8e-2

BaseQRankSum
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SIO_000300: -2.03e0

DP
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SIO_000300: 2.279322e6

VQSLOD
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ClippingRankSum
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SIO_000300: -8.04e-1

InbreedingCoeff
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SIO_000300: -7.0e-4

ReadPosRankSum
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SIO_000300: -3.18e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

QD
type: SiteQuality
SIO_000300: 1.3e1

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65660
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.662508662508663e-5
allele num: 11544
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.72e0

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -8.86e-1

MQ
type: SiteQuality
SIO_000300: 5.931e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.51e-1

QD
type: SiteQuality
SIO_000300: 1.378e1

DP
type: SiteQuality
SIO_000300: 2.279288e6

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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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.279501e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.548e0

MQRankSum
type: SiteQuality
SIO_000300: -1.59e-1

MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.218e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65664
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16504
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 2.31535077564251e-4
allele num: 8638
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Other
type: Population
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African
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allele count: 0
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
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MQ
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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MQRankSum
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6594
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 frequency: 0.0e0
allele num: 65664
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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African
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allele frequency: 9.72951936174353e-5
allele num: 10278
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South Asian
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 5.679999999999999e-1

ReadPosRankSum
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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QD
type: SiteQuality
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MQRankSum
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DP
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65664
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

East Asian
type: Population
allele count: 7
allele frequency: 8.103727714748784e-4
allele num: 8638
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.81e-1

FS
type: SiteQuality
SIO_000300: 1.171e0

VQSLOD
type: SiteQuality
SIO_000300: 3.54e0

QD
type: SiteQuality
SIO_000300: 2.056e1

DP
type: SiteQuality
SIO_000300: 2.279778e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.74e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeQuality
all individuals: 82
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 64
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12807
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3563
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4751
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2571
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3668
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21044
bin: 9.75e1
variant carriers: 6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65664
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 5.837711617046118e-4
allele num: 10278
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.591e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.534e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.37e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.332e0

DP
type: SiteQuality
SIO_000300: 2.27957e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

GenotypeQuality
all individuals: 120
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3667
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12671
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21055
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 5088
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6113
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 97
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3558
bin: 7.25e1
variant carriers: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.123595505617978e-3
allele num: 890
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.315886984715146e-4
allele num: 8636
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: 6588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65660
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.279435e6

MQRankSum
type: SiteQuality
SIO_000300: 6.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.02e-1

FS
type: SiteQuality
SIO_000300: 6.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

QD
type: SiteQuality
SIO_000300: 1.234e1

GenotypeQuality
all individuals: 209
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2572
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6068
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3549
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3666
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21062
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 12397
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5083
bin: 7.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.092731371473832e-5
allele num: 65652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.123595505617978e-3
allele num: 890
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.173e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.64e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.205e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.651e0

VQSLOD
type: SiteQuality
SIO_000300: 9.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

DP
type: SiteQuality
SIO_000300: 2.279658e6

GenotypeQuality
all individuals: 86
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21062
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5083
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3549
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3666
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6068
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12397
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.731413001167769e-5
allele num: 10276
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65652
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.64e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

DP
type: SiteQuality
SIO_000300: 2.279658e6

FS
type: SiteQuality
SIO_000300: 1.173e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.205e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.651e0