12-49220736-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49220736
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49220736
    reference: chr 12
allele count: 1
allele frequency: 8.257501940512956e-6
allele num: 121102
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.494-21C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2523-21C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.991-21C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.988-21C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1184-21C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.952-21C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.910-21C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1709C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.868-21C>T
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9903
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4638
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1840
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

12-49220737-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49220737
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49220737
    reference: chr 12
allele count: 12
allele frequency: 9.906711797242632e-5
allele num: 121130
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.952-20G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.991-20G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.988-20G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.868-20G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2523-20G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.494-20G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1184-20G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.910-20G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1708G>A
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3865
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4111
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4638
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9905
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4697
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

12-49220738-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49220738
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49220738
    reference: chr 12
allele count: 1
allele frequency: 8.255865792645674e-6
allele num: 121126
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.988-19C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.910-19C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.952-19C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.868-19C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1184-19C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.494-19C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2523-19C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.991-19C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1707C>T
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4638
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4697
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9900
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46700
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

12-49220743-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49220743
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49220743
    reference: chr 12
allele count: 3
allele frequency: 2.47614645580904e-5
allele num: 121156
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.868-14C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.910-14C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.494-14C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1184-14C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.991-14C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2523-14C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.952-14C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.988-14C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1702C>T
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3867
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9901
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4697
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4638
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7224
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1870
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

12-49220747-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49220747
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49220747
    reference: chr 12
allele count: 1
allele frequency: 8.254366559910193e-6
allele num: 121148
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.494-10C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.988-10C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.991-10C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.952-10C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1184-10C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.868-10C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.910-10C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2523-10C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1698C>T
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4638
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4697
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9898
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3865
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/12-49220749-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49220749
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49220749
    reference: chr 12
allele count: 124
allele frequency: 1.023406292298042e-3
allele num: 121164
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1184-8C>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.494-8C>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.988-8C>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.910-8C>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1696C>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2523-8C>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.952-8C>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.868-8C>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.991-8C>A
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3862
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4695
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9923
  bin: 9.75e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4639
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4378
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
hgvs: c.991-8C>A
num of homozygotes: 3
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

12-49220771-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49220771
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49220771
    reference: chr 12
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.924G>T
  hgvsp: ENST00000547392.1:c.924G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1005G>T
  hgvsp: ENST00000301050.2:c.1005G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.508G>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1674G>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2537G>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.966G>T
  hgvsp: ENST00000540990.1:c.966G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.882G>T
  hgvsp: ENST00000547230.1:c.882G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1198G>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1002G>T
  hgvsp: ENST00000536187.2:c.1002G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3534
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9849
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3017
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3867
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3431
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8186
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val335Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

12-49220780-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49220780
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49220780
    reference: chr 12
allele count: 5
allele frequency: 4.121875618281343e-5
allele num: 121304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1207T>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1014T>C
  hgvsp: ENST00000301050.2:c.1014T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2546T>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1011T>C
  hgvsp: ENST00000536187.2:c.1011T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.933T>C
  hgvsp: ENST00000547392.1:c.933T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.975T>C
  hgvsp: ENST00000540990.1:c.975T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.517T>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.891T>C
  hgvsp: ENST00000547230.1:c.891T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1665T>C
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3534
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5211
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4697
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9851
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3867
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4644
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp338Asp
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

12-49220813-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49220813
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49220813
    reference: chr 12
allele count: 3
allele frequency: 2.473533194815474e-5
allele num: 121284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.550G>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1044G>T
  hgvsp: ENST00000536187.2:c.1044G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2579G>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1632G>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1240G>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.966G>T
  hgvsp: ENST00000547392.1:c.966G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1047G>T
  hgvsp: ENST00000301050.2:c.1047G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1008G>T
  hgvsp: ENST00000540990.1:c.1008G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.924G>T
  hgvsp: ENST00000547230.1:c.924G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4644
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3867
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5209
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4697
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9849
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu349Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

12-49220816-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49220816
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49220816
    reference: chr 12
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2582T>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.927T>C
  hgvsp: ENST00000547230.1:c.927T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1011T>C
  hgvsp: ENST00000540990.1:c.1011T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.553T>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1047T>C
  hgvsp: ENST00000536187.2:c.1047T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1050T>C
  hgvsp: ENST00000301050.2:c.1050T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1243T>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.969T>C
  hgvsp: ENST00000547392.1:c.969T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1629T>C
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9847
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4644
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4697
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3867
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4714
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala350Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ

12-49220819-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49220819
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49220819
    reference: chr 12
allele count: 22
allele frequency: 1.814373134082175e-4
allele num: 121254
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1626G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1053G>A
  hgvsp: ENST00000301050.2:c.1053G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.556G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.930G>A
  hgvsp: ENST00000547230.1:c.930G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1014G>A
  hgvsp: ENST00000540990.1:c.1014G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1050G>A
  hgvsp: ENST00000536187.2:c.1050G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2585G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1246G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.972G>A
  hgvsp: ENST00000547392.1:c.972G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4644
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5209
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4706
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9852
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 4697
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3867
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1916
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu351Glu
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-49220829-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49220829
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49220829
    reference: chr 12
allele count: 3
allele frequency: 2.476473501733531e-5
allele num: 121140
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2595G>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1256G>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.982G>T
  hgvsp: ENSP00000446529.1:p.Val328Phe
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1063G>T
  hgvsp: ENSP00000301050.2:p.Val355Phe
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.566G>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1024G>T
  hgvsp: ENSP00000445495.1:p.Val342Phe
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1060G>T
  hgvsp: ENSP00000444160.2:p.Val354Phe
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.940G>T
  hgvsp: ENSP00000448304.1:p.Val314Phe
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1616G>T
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9833
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3868
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4700
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val355Phe
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP

12-49220834-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49220834
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49220834
    reference: chr 12
allele count: 1
allele frequency: 8.264326209484141e-6
allele num: 121002
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.987C>T
  hgvsp: ENST00000547392.1:c.987C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2600C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1068C>T
  hgvsp: ENST00000301050.2:c.1068C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.945C>T
  hgvsp: ENST00000547230.1:c.945C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1029C>T
  hgvsp: ENST00000540990.1:c.1029C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1065C>T
  hgvsp: ENST00000536187.2:c.1065C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.571C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1261C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1611C>T
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4408
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4701
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4651
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3868
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9831
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5211
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46654
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Tyr356Tyr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

12-49220837-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49220837
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49220836
    reference: chr 12
allele count: 1
allele frequency: 8.267059076404159e-6
allele num: 120962
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1072delC
  hgvsp: ENSP00000301050.2:p.Arg358GlyfsTer43
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.575delC
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1033delC
  hgvsp: ENSP00000445495.1:p.Arg345GlyfsTer43
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1265delC
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.991delC
  hgvsp: ENSP00000446529.1:p.Arg331GlyfsTer43
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2604delC
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.949delC
  hgvsp: ENSP00000448304.1:p.Arg317GlyfsTer43
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1069delC
  hgvsp: ENSP00000444160.2:p.Arg357GlyfsTer43
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1607delC
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4699
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3017
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9830
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4651
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3866
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg358GlyfsTer43
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: GC
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

12-49220839-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49220839
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49220839
    reference: chr 12
allele count: 2
allele frequency: 1.666416704161042e-5
allele num: 120018
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1073G>A
  hgvsp: ENSP00000301050.2:p.Arg358Gln
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1266G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.950G>A
  hgvsp: ENSP00000448304.1:p.Arg317Gln
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2605G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1070G>A
  hgvsp: ENSP00000444160.2:p.Arg357Gln
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1034G>A
  hgvsp: ENSP00000445495.1:p.Arg345Gln
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1606G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.992G>A
  hgvsp: ENSP00000446529.1:p.Arg331Gln
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.576G>A
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9891
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4641
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1757
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg358Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

12-49220846-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49220846
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49220846
    reference: chr 12
allele count: 2
allele frequency: 1.655711376392867e-5
allele num: 120794
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1273G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.583G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1077G>A
  hgvsp: ENST00000536187.2:c.1077G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1080G>A
  hgvsp: ENST00000301050.2:c.1080G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1041G>A
  hgvsp: ENST00000540990.1:c.1041G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2612G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.999G>A
  hgvsp: ENST00000547392.1:c.999G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.957G>A
  hgvsp: ENST00000547230.1:c.957G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1599G>A
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4738
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3897
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9447
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr360Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/12-49220849-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49220849
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49220849
    reference: chr 12
allele count: 3
allele frequency: 2.483772685123857e-5
allele num: 120784
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.586C>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1276C>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.960C>A
  hgvsp: ENSP00000448304.1:p.His320Gln
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2615C>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1044C>A
  hgvsp: ENSP00000445495.1:p.His348Gln
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1002C>A
  hgvsp: ENSP00000446529.1:p.His334Gln
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1080C>A
  hgvsp: ENSP00000444160.2:p.His360Gln
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1596C>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1083C>A
  hgvsp: ENSP00000301050.2:p.His361Gln
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4739
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5248
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4666
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9444
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4236
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 8.25e1
  variant carriers: 0
hgvs: p.His361Gln
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum

12-49220856-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49220856
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49220856
    reference: chr 12
allele count: 1
allele frequency: 8.281299170213822e-6
allele num: 120754
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1051G>C
  hgvsp: ENSP00000445495.1:p.Ala351Pro
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1090G>C
  hgvsp: ENSP00000301050.2:p.Ala364Pro
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1087G>C
  hgvsp: ENSP00000444160.2:p.Ala363Pro
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.967G>C
  hgvsp: ENSP00000448304.1:p.Ala323Pro
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1009G>C
  hgvsp: ENSP00000446529.1:p.Ala337Pro
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1589G>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2622G>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1283G>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.593G>C
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9441
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4419
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4669
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4743
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala364Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/12-49220866-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49220866
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49220866
    reference: chr 12
allele count: 1
allele frequency: 8.284866862189524e-6
allele num: 120702
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1061C>A
  hgvsp: ENSP00000445495.1:p.Pro354His
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1097C>A
  hgvsp: ENSP00000444160.2:p.Pro366His
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1293C>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1100C>A
  hgvsp: ENSP00000301050.2:p.Pro367His
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1019C>A
  hgvsp: ENSP00000446529.1:p.Pro340His
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1579C>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.603C>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.977C>A
  hgvsp: ENSP00000448304.1:p.Pro326His
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2632C>A
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9411
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4712
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro367His
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS

12-49220868-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49220868
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49220868
    reference: chr 12
allele count: 1
allele frequency: 8.286651861182008e-6
allele num: 120676
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2634G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1099G>A
  hgvsp: ENSP00000444160.2:p.Gly367Arg
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.605G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1577G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1295G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1063G>A
  hgvsp: ENSP00000445495.1:p.Gly355Arg
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1021G>A
  hgvsp: ENSP00000446529.1:p.Gly341Arg
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1102G>A
  hgvsp: ENSP00000301050.2:p.Gly368Arg
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.979G>A
  hgvsp: ENSP00000448304.1:p.Gly327Arg
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4711
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9410
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4380
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7895
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly368Arg
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

12-49220882-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49220882
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49220882
    reference: chr 12
allele count: 3
allele frequency: 2.489750526997195e-5
allele num: 120494
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1113T>C
  hgvsp: ENST00000536187.2:c.1113T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.619T>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1035T>C
  hgvsp: ENST00000547392.1:c.1035T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2648T>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1116T>C
  hgvsp: ENST00000301050.2:c.1116T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1077T>C
  hgvsp: ENST00000540990.1:c.1077T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.993T>C
  hgvsp: ENST00000547230.1:c.993T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1563T>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1309T>C
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3019
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3874
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9410
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4711
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46326
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Pro372Pro
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

12-49220883-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49220883
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49220883
    reference: chr 12
allele count: 6
allele frequency: 4.979831681689159e-5
allele num: 120486
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1036C>G
  hgvsp: ENSP00000446529.1:p.Pro346Ala
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1114C>G
  hgvsp: ENSP00000444160.2:p.Pro372Ala
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.994C>G
  hgvsp: ENSP00000448304.1:p.Pro332Ala
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1117C>G
  hgvsp: ENSP00000301050.2:p.Pro373Ala
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1078C>G
  hgvsp: ENSP00000445495.1:p.Pro360Ala
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.620C>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1310C>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1562C>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2649C>G
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9410
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3019
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3874
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4711
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1742
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46324
  bin: 9.75e1
  variant carriers: 6
hgvs: p.Pro373Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

12-49220897-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49220897
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49220897
    reference: chr 12
allele count: 1
allele frequency: 8.325701440346349e-6
allele num: 120110
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1128C>G
  hgvsp: ENST00000536187.2:c.1128C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1548C>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1092C>G
  hgvsp: ENST00000540990.1:c.1092C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.634C>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2663C>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1008C>G
  hgvsp: ENST00000547230.1:c.1008C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1050C>G
  hgvsp: ENST00000547392.1:c.1050C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1131C>G
  hgvsp: ENST00000301050.2:c.1131C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1324C>G
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9405
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4712
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7058
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro377Pro
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum

12-49220897-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49220897
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49220897
    reference: chr 12
allele count: 11
allele frequency: 9.158271584380984e-5
allele num: 120110
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1131C>T
  hgvsp: ENST00000301050.2:c.1131C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1548C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1050C>T
  hgvsp: ENST00000547392.1:c.1050C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2663C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.634C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1128C>T
  hgvsp: ENST00000536187.2:c.1128C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1324C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1008C>T
  hgvsp: ENST00000547230.1:c.1008C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1092C>T
  hgvsp: ENST00000540990.1:c.1092C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4712
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9405
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro377Pro
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum

12-49220898-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49220898
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49220898
    reference: chr 12
allele count: 3
allele frequency: 2.498792250412301e-5
allele num: 120058
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.635G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1009G>A
  hgvsp: ENSP00000448304.1:p.Gly337Arg
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1093G>A
  hgvsp: ENSP00000445495.1:p.Gly365Arg
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1547G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1051G>A
  hgvsp: ENSP00000446529.1:p.Gly351Arg
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1325G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1132G>A
  hgvsp: ENSP00000301050.2:p.Gly378Arg
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1129G>A
  hgvsp: ENSP00000444160.2:p.Gly377Arg
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2664G>A
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9397
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4713
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly378Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

12-49220913-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49220913
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49220913
    reference: chr 12
allele count: 1
allele frequency: 8.370442294170824e-6
allele num: 119468
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1101+7A>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.643+7A>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1017+7A>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1140+7A>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1059+7A>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2672+7A>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1333+7A>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1137+7A>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1532A>G
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4713
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4647
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9395
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
hgvs: c.1140+7A>G
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

12-49220919-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49220919
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49220919
    reference: chr 12
allele count: 11
allele frequency: 9.233455326864318e-5
allele num: 119132
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1137+13A>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1140+13A>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1017+13A>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1333+13A>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1101+13A>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2672+13A>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.643+13A>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1526A>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1059+13A>G
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4648
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4713
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9395
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD

12-49220931-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49220931
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49220931
    reference: chr 12
allele count: 1
allele frequency: 8.446373971653969e-6
allele num: 118394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.643+25T>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1333+25T>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1137+25T>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1101+25T>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1140+25T>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1017+25T>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1514T>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2672+25T>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1059+25T>A
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4713
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4214
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3019
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4649
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9388
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

12-49220933-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49220933
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49220933
    reference: chr 12
allele count: 3
allele frequency: 2.537598754884877e-5
allele num: 118222
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1017+27C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1101+27C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1333+27C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1137+27C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2672+27C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1512C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1140+27C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1059+27C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.643+27C>T
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3082
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3019
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4214
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9387
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4649
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4713
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3658
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

12-49220934-T-TCAAGCTAAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49220934
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49220943
    reference: chr 12
allele count: 3
allele frequency: 2.538500592316805e-5
allele num: 118180
alternate allele: TCAAGCTAAG
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4649
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4713
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9384
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46308
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD

12-49220944-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49220944
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49220944
    reference: chr 12
allele count: 1
allele frequency: 8.50152177239726e-6
allele num: 117626
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1140+38C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1059+38C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.643+38C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1017+38C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1501C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1101+38C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1333+38C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1137+38C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2672+38C>T
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4649
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4720
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9389
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD

12-49220948-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49220948
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49220948
    reference: chr 12
allele count: 1
allele frequency: 8.520500323779012e-6
allele num: 117364
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1140+42C>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.643+42C>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1333+42C>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1137+42C>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1497C>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1017+42C>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2672+42C>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1101+42C>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1059+42C>G
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9389
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4649
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4720
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

12-49220950-A-AAGGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49220950
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49220954
    reference: chr 12
allele count: 1
allele frequency: 8.518613169775961e-6
allele num: 117390
alternate allele: AAGGC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1017+46_1017+49dupGGCA
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1101+46_1101+49dupGGCA
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1493_145-1490dupGGCA
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1140+46_1140+49dupGGCA
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1137+46_1137+49dupGGCA
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1059+46_1059+49dupGGCA
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.643+46_643+49dupGGCA
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2672+46_2672+49dupGGCA
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1333+46_*1333+49dupGGCA
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4649
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9389
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4720
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2848
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46444
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD

12-49220953-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49220953
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49220953
    reference: chr 12
allele count: 8
allele frequency: 6.826754049118496e-5
allele num: 117186
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1140+47G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2672+47G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1137+47G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1101+47G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1333+47G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1017+47G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.643+47G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1492G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1059+47G>A
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4649
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9389
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4720
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3870
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1692
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

12-49220954-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49220954
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49220954
    reference: chr 12
allele count: 1
allele frequency: 8.554173581290312e-6
allele num: 116902
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1017+48C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1059+48C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2672+48C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.643+48C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1333+48C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1137+48C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1101+48C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1140+48C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1491C>T
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4720
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9389
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2593
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

12-49220958-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49220958
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49220957
    reference: chr 12
allele count: 1
allele frequency: 8.610297916307904e-6
allele num: 116140
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1017+56delC
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1137+56delC
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1483delC
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.643+56delC
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1333+56delC
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1059+56delC
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1101+56delC
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2672+56delC
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1140+56delC
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9388
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4720
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3870
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
reference allele: GC
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-49221321-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49221321
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49221321
    reference: chr 12
allele count: 6
allele frequency: 5.445239045994119e-5
allele num: 110188
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1141-47A>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1334-47A>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.644-47A>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2673-47A>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1018-47A>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1124A>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1102-47A>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1060-47A>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1138-47A>C
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7135
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13899
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5786
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14529
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7058
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2052
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3791
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5588
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

12-49221322-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49221322
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49221322
    reference: chr 12
allele count: 1
allele frequency: 9.071775890848393e-6
allele num: 110232
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1060-46G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1334-46G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1141-46G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1138-46G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.644-46G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1018-46G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2673-46G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1102-46G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1123G>A
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5761
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13903
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6747
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3851
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1696
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3335
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

12-49221323-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49221323
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49221323
    reference: chr 12
allele count: 1
allele frequency: 9.065689989665113e-6
allele num: 110306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2673-45G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.644-45G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1060-45G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1018-45G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1102-45G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1122G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1334-45G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1138-45G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1141-45G>A
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6430
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15102
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5758
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1672
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3325
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1505
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD

12-49221325-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49221325
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49221325
    reference: chr 12
allele count: 3
allele frequency: 2.718080672634364e-5
allele num: 110372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1102-43G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.644-43G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1060-43G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1334-43G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1141-43G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1018-43G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1138-43G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2673-43G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1120G>A
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5695
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5486
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4118
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-49221328-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49221328
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49221328
    reference: chr 12
allele count: 1316
allele frequency: 1.190648523451071e-2
allele num: 110528
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.644-40G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1018-40G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1141-40G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1060-40G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1117G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1102-40G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1138-40G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2673-40G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1334-40G>A
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14291
  bin: 2.75e1
  variant carriers: 228
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16575
  bin: 2.25e1
  variant carriers: 195
genotype depth: GenotypeDepth
  all individuals: 7397
  bin: 3.25e1
  variant carriers: 226
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 4.25e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 4532
  bin: 1.75e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 5538
  bin: 1.25e1
  variant carriers: 134
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 3.75e1
  variant carriers: 146
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 7.5e0
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.75e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 5.25e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 2691
  bin: 7.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1653
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3235
  bin: 7.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 20041
  bin: 6.25e1
  variant carriers: 3
num of homozygotes: 13
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD

12-49221330-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49221330
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49221330
    reference: chr 12
allele count: 3
allele frequency: 2.713164273052852e-5
allele num: 110572
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1102-38C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1115C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1141-38C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1060-38C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2673-38C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.644-38C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1138-38C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1018-38C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1334-38C>T
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4044
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14518
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16911
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2592
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6613
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2176
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3341
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

12-49221331-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49221331
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49221331
    reference: chr 12
allele count: 1
allele frequency: 9.031955056991637e-6
allele num: 110718
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1102-37T>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1114T>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.644-37T>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1138-37T>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1060-37T>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2673-37T>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1018-37T>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1334-37T>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1141-37T>C
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17292
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7473
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5396
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2609
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21217
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 7.5e0
  variant carriers: 0
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: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

12-49221337-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49221337
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49221337
    reference: chr 12
allele count: 1
allele frequency: 9.011119721736623e-6
allele num: 110974
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1018-31G>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.644-31G>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1334-31G>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2673-31G>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1141-31G>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1060-31G>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1138-31G>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1102-31G>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1108G>C
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3408
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

12-49221351-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49221351
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49221351
    reference: chr 12
allele count: 1
allele frequency: 8.897905433061058e-6
allele num: 112386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1334-17T>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1060-17T>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1141-17T>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1138-17T>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2673-17T>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.644-17T>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1102-17T>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1094T>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1018-17T>C
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16049
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3600
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25943
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

12-49221355-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49221355
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49221355
    reference: chr 12
allele count: 4
allele frequency: 3.548238299684207e-5
allele num: 112732
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1018-13G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1102-13G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.644-13G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1141-13G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1334-13G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1090G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1138-13G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1060-13G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2673-13G>A
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16217
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8140
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3696
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4061
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2786
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

12-49221367-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49221367
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49221367
    reference: chr 12
allele count: 1
allele frequency: 8.719155985700584e-6
allele num: 114690
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1018-1G>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1138-1G>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.644-1G>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1141-1G>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1334-1G>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1102-1G>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2673-1G>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1078G>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1060-1G>T
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8459
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27599
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7485
  bin: 6.75e1
  variant carriers: 0
hgvs: c.1141-1G>T
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

12-49221376-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49221376
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49221376
    reference: chr 12
allele count: 1
allele frequency: 8.623514599610217e-6
allele num: 115962
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1146G>A
  hgvsp: ENST00000536187.2:c.1146G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1068G>A
  hgvsp: ENST00000547392.1:c.1068G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1342G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1026G>A
  hgvsp: ENST00000547230.1:c.1026G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1149G>A
  hgvsp: ENST00000301050.2:c.1149G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.652G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1110G>A
  hgvsp: ENST00000540990.1:c.1110G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1069G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2681G>A
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1821
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7652
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln383Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD

12-49221376-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49221376
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49221376
    reference: chr 12
allele count: 1
allele frequency: 8.623514599610217e-6
allele num: 115962
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1069G>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2681G>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1149G>T
  hgvsp: ENSP00000301050.2:p.Gln383His
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1146G>T
  hgvsp: ENSP00000444160.2:p.Gln382His
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1342G>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1110G>T
  hgvsp: ENSP00000445495.1:p.Gln370His
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.652G>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1068G>T
  hgvsp: ENSP00000446529.1:p.Gln356His
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1026G>T
  hgvsp: ENSP00000448304.1:p.Gln342His
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17603
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3809
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln383His
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

12-49221384-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49221384
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49221384
    reference: chr 12
allele count: 3
allele frequency: 2.564146395664883e-5
allele num: 116998
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1157G>C
  hgvsp: ENSP00000301050.2:p.Gly386Ala
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2689G>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1154G>C
  hgvsp: ENSP00000444160.2:p.Gly385Ala
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.660G>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1118G>C
  hgvsp: ENSP00000445495.1:p.Gly373Ala
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1034G>C
  hgvsp: ENSP00000448304.1:p.Gly345Ala
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1076G>C
  hgvsp: ENSP00000446529.1:p.Gly359Ala
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1350G>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1061G>C
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18010
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8787
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7806
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly386Ala
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ

12-49221386-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49221386
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49221386
    reference: chr 12
allele count: 1
allele frequency: 8.539126276599378e-6
allele num: 117108
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1036G>A
  hgvsp: ENSP00000448304.1:p.Glu346Lys
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1120G>A
  hgvsp: ENSP00000445495.1:p.Glu374Lys
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1159G>A
  hgvsp: ENSP00000301050.2:p.Glu387Lys
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1078G>A
  hgvsp: ENSP00000446529.1:p.Glu360Lys
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1156G>A
  hgvsp: ENSP00000444160.2:p.Glu386Lys
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.662G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2691G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1059G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1352G>A
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu387Lys
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-49221388-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49221388
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49221388
    reference: chr 12
allele count: 1
allele frequency: 8.528202766548977e-6
allele num: 117258
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2693G>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1158G>C
  hgvsp: ENSP00000444160.2:p.Glu386Asp
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1080G>C
  hgvsp: ENSP00000446529.1:p.Glu360Asp
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1354G>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.664G>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1161G>C
  hgvsp: ENSP00000301050.2:p.Glu387Asp
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1122G>C
  hgvsp: ENSP00000445495.1:p.Glu374Asp
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1057G>C
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1038G>C
  hgvsp: ENSP00000448304.1:p.Glu346Asp
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22099
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3287
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu387Asp
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP

12-49221389-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49221389
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49221389
    reference: chr 12
allele count: 4
allele frequency: 3.409420228090213e-5
allele num: 117322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1355C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1039C>T
  hgvsp: ENSP00000448304.1:p.Arg347Cys
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2694C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1162C>T
  hgvsp: ENSP00000301050.2:p.Arg388Cys
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1056C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1123C>T
  hgvsp: ENSP00000445495.1:p.Arg375Cys
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1159C>T
  hgvsp: ENSP00000444160.2:p.Arg387Cys
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1081C>T
  hgvsp: ENSP00000446529.1:p.Arg361Cys
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.665C>T
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg388Cys
num of homozygotes: 1
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD

12-49221390-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49221390
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49221390
    reference: chr 12
allele count: 2
allele frequency: 1.699148726488029e-5
allele num: 117706
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1082G>A
  hgvsp: ENSP00000446529.1:p.Arg361His
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1356G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1040G>A
  hgvsp: ENSP00000448304.1:p.Arg347His
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1055G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1124G>A
  hgvsp: ENSP00000445495.1:p.Arg375His
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1160G>A
  hgvsp: ENSP00000444160.2:p.Arg387His
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2695G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1163G>A
  hgvsp: ENSP00000301050.2:p.Arg388His
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.666G>A
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28630
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5843
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Arg388His
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP

12-49221394-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49221394
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49221394
    reference: chr 12
allele count: 3
allele frequency: 2.541726679657714e-5
allele num: 118030
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1360C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1086C>T
  hgvsp: ENST00000547392.1:c.1086C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2699C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1167C>T
  hgvsp: ENST00000301050.2:c.1167C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1051C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1044C>T
  hgvsp: ENST00000547230.1:c.1044C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1164C>T
  hgvsp: ENST00000536187.2:c.1164C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1128C>T
  hgvsp: ENST00000540990.1:c.1128C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.670C>T
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9001
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22258
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5849
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3016
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28905
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly389Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

12-49221395-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49221395
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49221395
    reference: chr 12
allele count: 98
allele frequency: 8.282483392775647e-4
allele num: 118322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2700G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1087G>A
  hgvsp: ENSP00000446529.1:p.Glu363Lys
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1168G>A
  hgvsp: ENSP00000301050.2:p.Glu390Lys
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1361G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1045G>A
  hgvsp: ENSP00000448304.1:p.Glu349Lys
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1129G>A
  hgvsp: ENSP00000445495.1:p.Glu377Lys
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1165G>A
  hgvsp: ENSP00000444160.2:p.Glu389Lys
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1050G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.671G>A
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 4.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22396
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3685
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 18530
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9041
  bin: 3.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5960
  bin: 9.75e1
  variant carriers: 97
genotype quality: GenotypeQuality
  all individuals: 8000
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu390Lys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQ

12-49221403-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49221403
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49221403
    reference: chr 12
allele count: 1
allele frequency: 8.40463263350759e-6
allele num: 118982
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1137C>G
  hgvsp: ENSP00000445495.1:p.His379Gln
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1369C>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1176C>G
  hgvsp: ENSP00000301050.2:p.His392Gln
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1042C>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2708C>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.679C>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1095C>G
  hgvsp: ENSP00000446529.1:p.His365Gln
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1173C>G
  hgvsp: ENSP00000444160.2:p.His391Gln
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1053C>G
  hgvsp: ENSP00000448304.1:p.His351Gln
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9123
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His392Gln
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

12-49221405-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49221405
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49221405
    reference: chr 12
allele count: 1
allele frequency: 8.40223163272165e-6
allele num: 119016
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2710C>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1055C>G
  hgvsp: ENSP00000448304.1:p.Ser352Cys
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1371C>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.681C>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1040C>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1097C>G
  hgvsp: ENSP00000446529.1:p.Ser366Cys
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1175C>G
  hgvsp: ENSP00000444160.2:p.Ser392Cys
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1139C>G
  hgvsp: ENSP00000445495.1:p.Ser380Cys
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1178C>G
  hgvsp: ENSP00000301050.2:p.Ser393Cys
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29148
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5921
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser393Cys
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

12-49221406-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49221406
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49221406
    reference: chr 12
allele count: 5
allele frequency: 4.199563245422476e-5
allele num: 119060
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1056C>T
  hgvsp: ENST00000547230.1:c.1056C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1372C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1179C>T
  hgvsp: ENST00000301050.2:c.1179C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1176C>T
  hgvsp: ENST00000536187.2:c.1176C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1098C>T
  hgvsp: ENST00000547392.1:c.1098C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1140C>T
  hgvsp: ENST00000540990.1:c.1140C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2711C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.682C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1039C>T
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9209
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser393Ser
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

12-49221408-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49221408
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49221408
    reference: chr 12
allele count: 4
allele frequency: 3.357676487870394e-5
allele num: 119130
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1142C>G
  hgvsp: ENSP00000445495.1:p.Pro381Arg
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1178C>G
  hgvsp: ENSP00000444160.2:p.Pro393Arg
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1058C>G
  hgvsp: ENSP00000448304.1:p.Pro353Arg
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1181C>G
  hgvsp: ENSP00000301050.2:p.Pro394Arg
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2713C>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1037C>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.684C>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1100C>G
  hgvsp: ENSP00000446529.1:p.Pro367Arg
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1374C>G
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9228
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3731
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8145
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro394Arg
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

12-49221408-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49221408
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49221408
    reference: chr 12
allele count: 5
allele frequency: 4.197095609837992e-5
allele num: 119130
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1178C>T
  hgvsp: ENSP00000444160.2:p.Pro393Leu
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1058C>T
  hgvsp: ENSP00000448304.1:p.Pro353Leu
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1100C>T
  hgvsp: ENSP00000446529.1:p.Pro367Leu
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.684C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1142C>T
  hgvsp: ENSP00000445495.1:p.Pro381Leu
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1374C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2713C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1037C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1181C>T
  hgvsp: ENSP00000301050.2:p.Pro394Leu
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18907
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4075
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29198
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro394Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/12-49221408-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49221408
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49221408
    reference: chr 12
allele count: 2
allele frequency: 1.678838243935197e-5
allele num: 119130
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1178C>A
  hgvsp: ENSP00000444160.2:p.Pro393His
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1058C>A
  hgvsp: ENSP00000448304.1:p.Pro353His
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1142C>A
  hgvsp: ENSP00000445495.1:p.Pro381His
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1181C>A
  hgvsp: ENSP00000301050.2:p.Pro394His
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1037C>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2713C>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1374C>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1100C>A
  hgvsp: ENSP00000446529.1:p.Pro367His
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.684C>A
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5947
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro394His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-49221409-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49221409
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49221409
    reference: chr 12
allele count: 13
allele frequency: 1.090585728427375e-4
allele num: 119202
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1101C>A
  hgvsp: ENST00000547392.1:c.1101C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1143C>A
  hgvsp: ENST00000540990.1:c.1143C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1059C>A
  hgvsp: ENST00000547230.1:c.1059C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1179C>A
  hgvsp: ENST00000536187.2:c.1179C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.685C>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1375C>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1182C>A
  hgvsp: ENST00000301050.2:c.1182C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2714C>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1036C>A
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3743
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18881
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22247
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5996
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro394Pro
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

12-49221409-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49221409
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49221409
    reference: chr 12
allele count: 51
allele frequency: 4.278451703830472e-4
allele num: 119202
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1182C>G
  hgvsp: ENST00000301050.2:c.1182C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1143C>G
  hgvsp: ENST00000540990.1:c.1143C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1036C>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1375C>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1101C>G
  hgvsp: ENST00000547392.1:c.1101C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1059C>G
  hgvsp: ENST00000547230.1:c.1059C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2714C>G
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1179C>G
  hgvsp: ENST00000536187.2:c.1179C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.685C>G
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 18881
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3743
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22247
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 9236
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 8130
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1904
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro394Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/12-49221410-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49221410
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49221410
    reference: chr 12
allele count: 6
allele frequency: 5.033050364057309e-5
allele num: 119212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1180C>A
  hgvsp: ENSP00000444160.2:p.Leu394Ile
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1102C>A
  hgvsp: ENSP00000446529.1:p.Leu368Ile
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1060C>A
  hgvsp: ENSP00000448304.1:p.Leu354Ile
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2715C>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1144C>A
  hgvsp: ENSP00000445495.1:p.Leu382Ile
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1183C>A
  hgvsp: ENSP00000301050.2:p.Leu395Ile
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.686C>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1376C>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1035C>A
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3753
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9251
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22238
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu395Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

12-49221415-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49221415
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49221415
    reference: chr 12
allele count: 1
allele frequency: 8.377594960038872e-6
allele num: 119366
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1188G>A
  hgvsp: ENST00000301050.2:c.1188G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1107G>A
  hgvsp: ENST00000547392.1:c.1107G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1381G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1065G>A
  hgvsp: ENST00000547230.1:c.1065G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2720G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.691G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1149G>A
  hgvsp: ENST00000540990.1:c.1149G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1030G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1185G>A
  hgvsp: ENST00000536187.2:c.1185G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9282
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3763
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8177
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5986
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu396Glu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

12-49221416-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49221416
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49221416
    reference: chr 12
allele count: 115
allele frequency: 9.638594609092128e-4
allele num: 119312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.692C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1029C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1186C>T
  hgvsp: ENSP00000444160.2:p.Arg396Trp
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1150C>T
  hgvsp: ENSP00000445495.1:p.Arg384Trp
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1189C>T
  hgvsp: ENSP00000301050.2:p.Arg397Trp
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1066C>T
  hgvsp: ENSP00000448304.1:p.Arg356Trp
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1108C>T
  hgvsp: ENSP00000446529.1:p.Arg370Trp
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1382C>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2721C>T
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22103
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3782
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 18972
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9342
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 3086
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg397Trp
num of homozygotes: 1
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

12-49221417-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49221417
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49221417
    reference: chr 12
allele count: 5
allele frequency: 4.186973488083873e-5
allele num: 119418
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.693G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1190G>A
  hgvsp: ENSP00000301050.2:p.Arg397Gln
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1028G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1067G>A
  hgvsp: ENSP00000448304.1:p.Arg356Gln
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1187G>A
  hgvsp: ENSP00000444160.2:p.Arg396Gln
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1151G>A
  hgvsp: ENSP00000445495.1:p.Arg384Gln
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2722G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1109G>A
  hgvsp: ENSP00000446529.1:p.Arg370Gln
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1383G>A
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19031
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg397Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

12-49221419-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49221419
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49221419
    reference: chr 12
allele count: 1
allele frequency: 8.363161944267889e-6
allele num: 119572
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1026G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1153G>A
  hgvsp: ENSP00000445495.1:p.Asp385Asn
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1111G>A
  hgvsp: ENSP00000446529.1:p.Asp371Asn
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1189G>A
  hgvsp: ENSP00000444160.2:p.Asp397Asn
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1192G>A
  hgvsp: ENSP00000301050.2:p.Asp398Asn
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2724G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.695G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1385G>A
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1069G>A
  hgvsp: ENSP00000448304.1:p.Asp357Asn
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3783
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6035
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4123
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp398Asn
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD

12-49221428-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49221428
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49221428
    reference: chr 12
allele count: 1
allele frequency: 8.349336227769892e-6
allele num: 119770
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447462
  ensembl transcript: ENST00000551544
  gene symbol: CACNB3
  hgvsc: ENST00000551544.1:c.*1394A>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000301050
  ensembl transcript: ENST00000301050
  gene symbol: CACNB3
  hgvsc: ENST00000301050.2:c.1201A>T
  hgvsp: ENSP00000301050.2:p.Met401Leu
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000444160
  ensembl transcript: ENST00000536187
  gene symbol: CACNB3
  hgvsc: ENST00000536187.2:c.1198A>T
  hgvsp: ENSP00000444160.2:p.Met400Leu
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000448304
  ensembl transcript: ENST00000547230
  gene symbol: CACNB3
  hgvsc: ENST00000547230.1:c.1078A>T
  hgvsp: ENSP00000448304.1:p.Met360Leu
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000548860
  gene symbol: CACNB3
  hgvsc: ENST00000548860.1:n.2733A>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000445495
  ensembl transcript: ENST00000540990
  gene symbol: CACNB3
  hgvsc: ENST00000540990.1:c.1162A>T
  hgvsp: ENSP00000445495.1:p.Met388Leu
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167535
  ensembl transcript: ENST00000552480
  gene symbol: CACNB3
  hgvsc: ENST00000552480.1:n.704A>T
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000446529
  ensembl transcript: ENST00000547392
  gene symbol: CACNB3
  hgvsc: ENST00000547392.1:c.1120A>T
  hgvsp: ENSP00000446529.1:p.Met374Leu
  variant of: http://identifiers.org/hgnc/1403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167535
  ensembl protein: ENSP00000447261
  ensembl transcript: ENST00000550190
  gene symbol: CACNB3
  hgvsc: ENST00000550190.1:c.145-1017A>T
  variant of: http://identifiers.org/hgnc/1403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met401Leu
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 919
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6630
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46703
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 695
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.110228522546743e-5
allele num: 16366
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66590
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.49e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.493e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.83e-1

DP
type: SiteQuality
SIO_000300: 4.203407e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.9e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.72e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6965
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1876
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 921
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46705
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 252
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 7.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.651552459311753e-4
allele num: 66604
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.46e-1

DP
type: SiteQuality
SIO_000300: 4.204428e6

MQ
type: SiteQuality
SIO_000300: 5.982e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.82e0

MQRankSum
type: SiteQuality
SIO_000300: -9.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

QD
type: SiteQuality
SIO_000300: 1.308e1

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6876
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 922
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 331
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16376
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501321162623108e-5
allele num: 66608
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.718e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

FS
type: SiteQuality
SIO_000300: 6.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -9.694e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.173e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.004e0

DP
type: SiteQuality
SIO_000300: 4.204148e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e-1

QD
type: SiteQuality
SIO_000300: 1.279e1

GenotypeQuality
all individuals: 764
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 932
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46696
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.82882223847842e-4
allele num: 16404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66610
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 9.95e-1

DP
type: SiteQuality
SIO_000300: 4.206227e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.19e-1

QD
type: SiteQuality
SIO_000300: 1.524e1

MQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.311e0

FS
type: SiteQuality
SIO_000300: 3.407e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.59e-1

GenotypeQuality
all individuals: 421
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 749
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46695
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 95
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7450
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1896
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501276084671971e-5
allele num: 66610
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.465e1

FS
type: SiteQuality
SIO_000300: 1.3586e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.55e-1

DP
type: SiteQuality
SIO_000300: 4.207681e6

VQSLOD
type: SiteQuality
SIO_000300: -1.836e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

GenotypeQuality
all individuals: 760
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 138
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7494
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1889
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46710
bin: 9.75e1
variant carriers: 121

GenotypeQuality
all individuals: 67
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.591121091725686e-4
allele num: 11578
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 121
allele frequency: 1.164357197844496e-2
allele num: 10392
num of homozygotes: 3

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66608
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.87e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.23e-1

DP
type: SiteQuality
SIO_000300: 4.212082e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.62e-1

QD
type: SiteQuality
SIO_000300: 1.364e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.687e0

VQSLOD
type: SiteQuality
SIO_000300: 6.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.09e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

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

GenotypeQuality
all individuals: 41
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46663
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 104
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1953
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 922
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 694
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
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

ClippingRankSum
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ReadPosRankSum
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
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SIO_000300: 5.974e1

BaseQRankSum
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SIO_000300: -7.23e0

MQRankSum
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SIO_000300: -1.69e-1

DP
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QD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 0.0e0

GenotypeQuality
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bin: 4.25e1
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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

South Asian
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allele count: 5
allele frequency: 3.028467595396729e-4
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

VQSLOD
type: SiteQuality
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FS
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DP
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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MQ
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SIO_000300: 5.943e1

BaseQRankSum
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SIO_000300: 6.61e-1

QD
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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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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

South Asian
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allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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DP
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ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 5.975e1

BaseQRankSum
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QD
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 5.21e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500960614793468e-5
allele num: 66624
num of homozygotes: 0

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.307e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.7e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.386e0

DP
type: SiteQuality
SIO_000300: 4.20833e6

QD
type: SiteQuality
SIO_000300: 8.56e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.707e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

East Asian
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allele count: 22
allele frequency: 2.543352601156069e-3
allele num: 8650
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.41e-1

DP
type: SiteQuality
SIO_000300: 4.21015e6

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.949e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.099e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.72e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.27e-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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GenotypeQuality
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variant carriers: 3

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66538
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
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allele num: 904
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Latino
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allele frequency: 2.592016588906169e-4
allele num: 11574
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.929e1

QD
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DP
type: SiteQuality
SIO_000300: 4.204692e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504936190705514e-5
allele num: 66448
num of homozygotes: 0

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

African
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allele count: 0
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VQSLOD
type: SiteQuality
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BaseQRankSum
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FS
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DP
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
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QD
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MQRankSum
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InbreedingCoeff
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66420
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Latino
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East Asian
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South Asian
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African
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European (Finnish)
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allele frequency: 0.0e0
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Other
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MQRankSum
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QD
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MQ
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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DP
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ReadPosRankSum
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FS
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.03112970203995e-5
allele num: 65982
num of homozygotes: 0

African
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6530
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Latino
type: Population
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.57e-1

QD
type: SiteQuality
SIO_000300: 1.417e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.775e0

DP
type: SiteQuality
SIO_000300: 4.247236e6

FS
type: SiteQuality
SIO_000300: 1.757e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

GenotypeQuality
all individuals: 514
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 890
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variant carriers: 0

GenotypeQuality
all individuals: 7502
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66300
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e0

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.738e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.17e1

FS
type: SiteQuality
SIO_000300: 9.041e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

VQSLOD
type: SiteQuality
SIO_000300: -3.39e-1

DP
type: SiteQuality
SIO_000300: 4.157409e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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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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variant carriers: 3

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

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

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

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.537205081669691e-4
allele num: 6612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
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: 66298
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.639e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.41e-1

MQ
type: SiteQuality
SIO_000300: 5.902e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.156958e6

QD
type: SiteQuality
SIO_000300: 1.067e1

MQRankSum
type: SiteQuality
SIO_000300: 2.32e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 105
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.716284492809949e-5
allele num: 10292
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66278
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.289e1

FS
type: SiteQuality
SIO_000300: 4.304e0

MQ
type: SiteQuality
SIO_000300: 5.927e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.49e-1

DP
type: SiteQuality
SIO_000300: 4.156756e6

GenotypeQuality
all individuals: 7888
bin: 6.25e1
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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 8.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509661835748792e-5
allele num: 66240
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.14708e6

VQSLOD
type: SiteQuality
SIO_000300: -8.774e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.38e-1

QD
type: SiteQuality
SIO_000300: 1.013e1

MQ
type: SiteQuality
SIO_000300: 5.808e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.381e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 5.216e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
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: 900
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 1.216e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.4e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.511e1

MQ
type: SiteQuality
SIO_000300: 5.955e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.72e-1

DP
type: SiteQuality
SIO_000300: 4.146741e6

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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bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10234
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.821051353648173e-4
allele num: 16474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66114
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

MQRankSum
type: SiteQuality
SIO_000300: -5.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.55e-1

QD
type: SiteQuality
SIO_000300: 1.259e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 3.551e0

MQ
type: SiteQuality
SIO_000300: 5.901e1

DP
type: SiteQuality
SIO_000300: 4.142795e6

VQSLOD
type: SiteQuality
SIO_000300: 1.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.47e-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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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66108
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10234
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.191209551825575e-4
allele num: 11558
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.082000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 4.42e-1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 1.33e1

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-1

DP
type: SiteQuality
SIO_000300: 4.142719e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 102
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GenotypeQuality
all individuals: 49
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.109481915933529e-5
allele num: 16368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65928
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.852e0

DP
type: SiteQuality
SIO_000300: 4.132452e6

MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.92e0

GenotypeQuality
all individuals: 35
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
all individuals: 418
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 102
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 722
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1672
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46324
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 785
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7058
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.844457570387872e-5
allele num: 10158
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.516806212838248e-4
allele num: 65928
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.66e-1

DP
type: SiteQuality
SIO_000300: 4.132452e6

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

FS
type: SiteQuality
SIO_000300: 3.852e0

QD
type: SiteQuality
SIO_000300: 1.153e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.5e-2

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

GenotypeQuality
all individuals: 49
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 36
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 7015
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 7
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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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bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 239
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517358582180141e-5
allele num: 65904
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16352
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10148
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.731601731601732e-4
allele num: 11550
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -3.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 5.99e-1

DP
type: SiteQuality
SIO_000300: 4.13044e6

QD
type: SiteQuality
SIO_000300: 1.166e1

MQ
type: SiteQuality
SIO_000300: 5.948e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.73e-1

GenotypeQuality
all individuals: 783
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2126
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variant carriers: 0

GenotypeQuality
all individuals: 117
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 51
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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 550
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variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16333178222429e-4
allele num: 8596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
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: 16128
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10050
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65654
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e0

DP
type: SiteQuality
SIO_000300: 4.113238e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.64e-1

MQ
type: SiteQuality
SIO_000300: 5.986e1

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-2

QD
type: SiteQuality
SIO_000300: 1.322e1

FS
type: SiteQuality
SIO_000300: 9.224e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e0

VQSLOD
type: SiteQuality
SIO_000300: -2.87e-1

GenotypeQuality
all individuals: 5254
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 532
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variant carriers: 0

GenotypeQuality
all individuals: 2438
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 238
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variant carriers: 0

GenotypeQuality
all individuals: 556
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GenotypeQuality
all individuals: 43
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variant carriers: 0

GenotypeQuality
all individuals: 46316
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 100
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variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

East Asian
type: Population
allele count: 10
allele frequency: 1.163602513381429e-3
allele num: 8594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527137228551358e-5
allele num: 65482
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16018
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

VQSLOD
type: SiteQuality
SIO_000300: 2.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.33e-1

MQ
type: SiteQuality
SIO_000300: 5.914e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.36e0

FS
type: SiteQuality
SIO_000300: 1.491e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.41e-1

DP
type: SiteQuality
SIO_000300: 4.103347e6

QD
type: SiteQuality
SIO_000300: 1.403e1

GenotypeQuality
all individuals: 85
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
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variant carriers: 0

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

GenotypeQuality
all individuals: 510
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variant carriers: 0

GenotypeQuality
all individuals: 46308
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variant carriers: 1

GenotypeQuality
all individuals: 1231
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variant carriers: 0

GenotypeQuality
all individuals: 122
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variant carriers: 0

GenotypeQuality
all individuals: 2822
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variant carriers: 0

GenotypeQuality
all individuals: 61
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variant carriers: 0

GenotypeQuality
all individuals: 4035
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variant carriers: 0

GenotypeQuality
all individuals: 782
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variant carriers: 0

GenotypeQuality
all individuals: 779
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variant carriers: 0

GenotypeQuality
all individuals: 805
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9872
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65058
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.308352258390108e-5
allele num: 15852
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.477e0

VQSLOD
type: SiteQuality
SIO_000300: 9.94e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.24e0

MQRankSum
type: SiteQuality
SIO_000300: 6.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.068e0

DP
type: SiteQuality
SIO_000300: 4.080432e6

QD
type: SiteQuality
SIO_000300: 1.485e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.55e-1

GenotypeQuality
all individuals: 697
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 777
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variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2910
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 46307
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 125
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variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 4.75e1
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GenotypeQuality
all individuals: 495
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variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
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variant carriers: 0

GenotypeQuality
all individuals: 506
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variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64970
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9852
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15790
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.601908065915004e-4
allele num: 11530
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 4.075636e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.99e-1

QD
type: SiteQuality
SIO_000300: 1.365e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.931e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.449e0

GenotypeQuality
all individuals: 697
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 128
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variant carriers: 0

GenotypeQuality
all individuals: 28
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GenotypeQuality
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GenotypeQuality
all individuals: 2917
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variant carriers: 0

GenotypeQuality
all individuals: 1169
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variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
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variant carriers: 0

GenotypeQuality
all individuals: 777
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9836
num of homozygotes: 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: 6608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.619791185438418e-5
allele num: 64938
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.225e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.15e-1

DP
type: SiteQuality
SIO_000300: 4.072671e6

MQRankSum
type: SiteQuality
SIO_000300: -5.032e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.418e1

FS
type: SiteQuality
SIO_000300: 1.734e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.984e0

QD
type: SiteQuality
SIO_000300: 5.86e0

GenotypeQuality
all individuals: 84
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2898
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1366
bin: 3.25e1
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GenotypeQuality
all individuals: 494
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GenotypeQuality
all individuals: 209
bin: 1.25e1
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GenotypeQuality
all individuals: 738
bin: 8.25e1
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GenotypeQuality
all individuals: 967
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 213
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2150
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variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1101
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 816
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9816
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64788
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.485925541574782e-5
allele num: 15418
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

DP
type: SiteQuality
SIO_000300: 4.058781e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.062e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

MQRankSum
type: SiteQuality
SIO_000300: -1.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.172000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -1.935e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e0

QD
type: SiteQuality
SIO_000300: 1.901e1

GenotypeQuality
all individuals: 2884
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 841
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2011
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 8.25e1
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GenotypeQuality
all individuals: 46443
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 253
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 9.25e1
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GenotypeQuality
all individuals: 963
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9814
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64718
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.556517178075007e-5
allele num: 15252
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.2e-1

QD
type: SiteQuality
SIO_000300: 9.91e0

VQSLOD
type: SiteQuality
SIO_000300: 5.41e-1

DP
type: SiteQuality
SIO_000300: 4.056039e6

GenotypeQuality
all individuals: 802
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1138
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.021033285685113e-4
allele num: 9794
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64710
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 6.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

DP
type: SiteQuality
SIO_000300: 4.05449e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.87e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.796e0

MQRankSum
type: SiteQuality
SIO_000300: -5.679999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

MQ
type: SiteQuality
SIO_000300: 5.518e1

FS
type: SiteQuality
SIO_000300: 5.112e0

QD
type: SiteQuality
SIO_000300: 1.749e1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 136
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1444
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 8
allele frequency: 8.161599673536013e-4
allele num: 9802
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
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: 11522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64634
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.376e1

MQ
type: SiteQuality
SIO_000300: 5.94e1

DP
type: SiteQuality
SIO_000300: 4.053277e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.79e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.4e0

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.43e-1

GenotypeQuality
all individuals: 467
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 773
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variant carriers: 0

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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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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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1114
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14990
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.166044776119403e-4
allele num: 8576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64562
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

QD
type: SiteQuality
SIO_000300: 1.273e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.33e-1

MQ
type: SiteQuality
SIO_000300: 5.885e1

MQRankSum
type: SiteQuality
SIO_000300: 6.32e-1

DP
type: SiteQuality
SIO_000300: 4.052372e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.51e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.737e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.867e0

GenotypeQuality
all individuals: 1024
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1032
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variant carriers: 0

GenotypeQuality
all individuals: 46440
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variant carriers: 1

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
all individuals: 948
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variant carriers: 0

GenotypeQuality
all individuals: 560
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14622
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.166861143523921e-4
allele num: 8570
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64232
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.007e1

DP
type: SiteQuality
SIO_000300: 4.050858e6

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

MQRankSum
type: SiteQuality
SIO_000300: -6.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.75e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

QD
type: SiteQuality
SIO_000300: 1.199e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.394e0

GenotypeQuality
all individuals: 1690
bin: 2.75e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2692
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variant carriers: 0

GenotypeQuality
all individuals: 2543
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61904
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 6.447453255963894e-4
allele num: 9306
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11322
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12190
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

DP
type: SiteQuality
SIO_000300: 1.434395e6

VQSLOD
type: SiteQuality
SIO_000300: 8.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.102e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.58e-1

QD
type: SiteQuality
SIO_000300: 1.286e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.59e-1

MQ
type: SiteQuality
SIO_000300: 5.889e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6262
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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: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2729
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12240
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6190
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11316
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9298
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.614987080103359e-5
allele num: 61920
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.72e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.407e-1

FS
type: SiteQuality
SIO_000300: 2.681e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.011e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.18e0

QD
type: SiteQuality
SIO_000300: 1.874e1

DP
type: SiteQuality
SIO_000300: 1.436125e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 7.25e1
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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bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61954
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.614465611882467e-4
allele num: 6194
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11330
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9304
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.75e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.45e-1

FS
type: SiteQuality
SIO_000300: 2.682e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.35e-1

QD
type: SiteQuality
SIO_000300: 3.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

DP
type: SiteQuality
SIO_000300: 1.438125e6

MQ
type: SiteQuality
SIO_000300: 5.919e1

VQSLOD
type: SiteQuality
SIO_000300: -2.785e0

GenotypeQuality
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bin: 5.75e1
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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variant carriers: 3

GenotypeQuality
all individuals: 1294
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GenotypeQuality
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GenotypeQuality
all individuals: 2760
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11334
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.536901674133459e-4
allele num: 8482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61962
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12286
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.947e1

DP
type: SiteQuality
SIO_000300: 1.445946e6

QD
type: SiteQuality
SIO_000300: 6.36e0

VQSLOD
type: SiteQuality
SIO_000300: -1.974e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.514e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.25e-1

GenotypeQuality
all individuals: 4126
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 6680
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variant carriers: 1274

GenotypeQuality
all individuals: 2219
bin: 3.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 10

GenotypeQuality
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variant carriers: 7

GenotypeQuality
all individuals: 512
bin: 1.75e1
variant carriers: 3

East Asian
type: Population
allele count: 1
allele frequency: 1.177578897786152e-4
allele num: 8492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 10
allele frequency: 1.614987080103359e-3
allele num: 6192
num of homozygotes: 0

South Asian
type: Population
allele count: 291
allele frequency: 2.349047465288989e-2
allele num: 12388
num of homozygotes: 7

European (Non-Finnish)
type: Population
allele count: 913
allele frequency: 1.472675656493967e-2
allele num: 61996
num of homozygotes: 6

Latino
type: Population
allele count: 67
allele frequency: 5.908289241622575e-3
allele num: 11340
num of homozygotes: 0

African
type: Population
allele count: 22
allele frequency: 2.358996354278362e-3
allele num: 9326
num of homozygotes: 0

Other
type: Population
allele count: 12
allele frequency: 1.511335012594458e-2
allele num: 794
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.26e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.479e0

DP
type: SiteQuality
SIO_000300: 1.459561e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.38e1

VQSLOD
type: SiteQuality
SIO_000300: 6.25e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12382
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.818342151675486e-5
allele num: 11340
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.355712603062426e-4
allele num: 8490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6208
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62042
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9320
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.363e0

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-2

QD
type: SiteQuality
SIO_000300: 8.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -6.218e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.75e-1

MQ
type: SiteQuality
SIO_000300: 5.906e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.981e0

DP
type: SiteQuality
SIO_000300: 1.465051e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.17e-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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bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12458
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.61077284881286e-5
allele num: 62082
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6218
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.02e-1

QD
type: SiteQuality
SIO_000300: 7.6e0

FS
type: SiteQuality
SIO_000300: 6.764e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

VQSLOD
type: SiteQuality
SIO_000300: -8.903e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.32e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

DP
type: SiteQuality
SIO_000300: 1.468873e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12634
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.06951871657754e-4
allele num: 9350
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6216
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62140
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.82e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.590000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.734e1

DP
type: SiteQuality
SIO_000300: 1.490076e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.26e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

GenotypeQuality
all individuals: 173
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1230
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5790
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.597444089456869e-5
allele num: 62600
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11374
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6244
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9436
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.136e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.66e0

FS
type: SiteQuality
SIO_000300: 6.879e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e0

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

VQSLOD
type: SiteQuality
SIO_000300: -1.068e0

DP
type: SiteQuality
SIO_000300: 1.53193e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

GenotypeQuality
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variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.783315794508753e-5
allele num: 62718
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
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African
type: Population
allele count: 1
allele frequency: 1.056412423410099e-4
allele num: 9466
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.489e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

QD
type: SiteQuality
SIO_000300: 1.081e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

MQRankSum
type: SiteQuality
SIO_000300: 3.63e-1

DP
type: SiteQuality
SIO_000300: 1.540659e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.15e0

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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variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14752
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.578980610118108e-5
allele num: 63332
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6282
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e-1

MQ
type: SiteQuality
SIO_000300: 5.913e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.941e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.25e-1

QD
type: SiteQuality
SIO_000300: 1.009e1

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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bin: 8.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6304
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.56897200953935e-5
allele num: 63736
num of homozygotes: 0

East Asian
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African
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allele count: 0
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Latino
type: Population
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

MQRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.526e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.24e-1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9580
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63736
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.453278265358803e-5
allele num: 15496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6304
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

FS
type: SiteQuality
SIO_000300: 7.526e0

DP
type: SiteQuality
SIO_000300: 1.591173e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.381e0

QD
type: SiteQuality
SIO_000300: 1.338e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.68e-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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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.061005770816158e-4
allele num: 9704
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15964
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64140
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.16822429906542e-3
allele num: 856
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.62e-1

FS
type: SiteQuality
SIO_000300: 1.608e0

QD
type: SiteQuality
SIO_000300: 1.21e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

DP
type: SiteQuality
SIO_000300: 1.606291e6

MQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 858
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64188
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9726
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.249218847644044e-5
allele num: 16002
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6316
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.434e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.91e-1

DP
type: SiteQuality
SIO_000300: 1.607648e6

MQRankSum
type: SiteQuality
SIO_000300: 5.51e-1

QD
type: SiteQuality
SIO_000300: 1.221e1

VQSLOD
type: SiteQuality
SIO_000300: 7.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.773e0

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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GenotypeQuality
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GenotypeQuality
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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: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6316
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.026904908605463e-4
allele num: 9738
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64266
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16054
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.6e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.077e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.292e1

DP
type: SiteQuality
SIO_000300: 1.609947e6

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

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

GenotypeQuality
all individuals: 218
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GenotypeQuality
all individuals: 2985
bin: 8.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6318
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16090
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.221613886642194e-5
allele num: 64292
num of homozygotes: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

QD
type: SiteQuality
SIO_000300: 1.235e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.612498e6

VQSLOD
type: SiteQuality
SIO_000300: 4.84e0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6324
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16222
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551494088807522e-5
allele num: 64454
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.019160211985324e-4
allele num: 9812
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

MQRankSum
type: SiteQuality
SIO_000300: -4.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.348e0

QD
type: SiteQuality
SIO_000300: 1.395e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.413e0

FS
type: SiteQuality
SIO_000300: 4.037e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.617105e6

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.095975232198142e-5
allele num: 64600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16318
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.167133520074697e-4
allele num: 8568
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9872
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6332
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 8.573e0

DP
type: SiteQuality
SIO_000300: 1.623525e6

VQSLOD
type: SiteQuality
SIO_000300: -7.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.33e-1

QD
type: SiteQuality
SIO_000300: 9.01e0

BaseQRankSum
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SIO_000300: -1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.19e-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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GenotypeQuality
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South Asian
type: Population
allele count: 94
allele frequency: 5.738705738705739e-3
allele num: 16380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.543924656476764e-5
allele num: 64770
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.613695765812859e-4
allele num: 11478
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6344
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9916
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Other
type: Population
allele count: 0
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allele num: 866
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
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VQSLOD
type: SiteQuality
SIO_000300: 4.91e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.91e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

DP
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.307e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 258
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GenotypeQuality
all individuals: 1409
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GenotypeQuality
all individuals: 39
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GenotypeQuality
all individuals: 1896
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GenotypeQuality
all individuals: 1504
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GenotypeQuality
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GenotypeQuality
all individuals: 5918
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4039
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.072382803011902e-5
allele num: 16468
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6360
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65156
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.11e0

MQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

QD
type: SiteQuality
SIO_000300: 1.175e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.207e0

DP
type: SiteQuality
SIO_000300: 1.63692e6

GenotypeQuality
all individuals: 3069
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
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GenotypeQuality
all individuals: 3377
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1510
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1899
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4054
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10062
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534401276621862e-5
allele num: 65172
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.74e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.91e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.107e0

DP
type: SiteQuality
SIO_000300: 1.640146e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.91e-1

MQ
type: SiteQuality
SIO_000300: 5.896e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.022e1

GenotypeQuality
all individuals: 1514
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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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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bin: 9.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3071
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 4.964257347100874e-4
allele num: 10072
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65206
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6376
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.94e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.113e0

QD
type: SiteQuality
SIO_000300: 1.276e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

DP
type: SiteQuality
SIO_000300: 1.640599e6

GenotypeQuality
all individuals: 151
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1903
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10082
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.598828831590888e-5
allele num: 65234
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.567398119122257e-4
allele num: 6380
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.917e1

DP
type: SiteQuality
SIO_000300: 1.641615e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

FS
type: SiteQuality
SIO_000300: 1.092e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-1

QD
type: SiteQuality
SIO_000300: 1.24e1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.08e-1

GenotypeQuality
all individuals: 319
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3080
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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: 9.75e1
variant carriers: 5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 431
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1517
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variant carriers: 0

GenotypeQuality
all individuals: 3388
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1903
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6380
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10082
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.664714719318147e-5
allele num: 65234
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

MQ
type: SiteQuality
SIO_000300: 5.917e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.08e-1

DP
type: SiteQuality
SIO_000300: 1.641615e6

FS
type: SiteQuality
SIO_000300: 1.092e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-1

QD
type: SiteQuality
SIO_000300: 1.24e1

GenotypeQuality
all individuals: 4075
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
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variant carriers: 0

GenotypeQuality
all individuals: 80
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variant carriers: 0

GenotypeQuality
all individuals: 8145
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
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variant carriers: 0

GenotypeQuality
all individuals: 37
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 1345
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 431
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GenotypeQuality
all individuals: 275
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GenotypeQuality
all individuals: 29198
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1903
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3388
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3080
bin: 8.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532942943863629e-5
allele num: 65234
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10082
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.700191404210893e-5
allele num: 11494
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.05e-1

QD
type: SiteQuality
SIO_000300: 1.24e1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQ
type: SiteQuality
SIO_000300: 5.917e1

FS
type: SiteQuality
SIO_000300: 1.092e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

DP
type: SiteQuality
SIO_000300: 1.641615e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-1

GenotypeQuality
all individuals: 150
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1312
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1516
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1904
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variant carriers: 0

GenotypeQuality
all individuals: 3385
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GenotypeQuality
all individuals: 8130
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variant carriers: 0

GenotypeQuality
all individuals: 10
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GenotypeQuality
all individuals: 35
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 293
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GenotypeQuality
all individuals: 267
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variant carriers: 0

GenotypeQuality
all individuals: 29171
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4066
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.136363636363636e-3
allele num: 880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6390
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.427479062993082e-4
allele num: 16478
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.698677800974252e-5
allele num: 11496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10096
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65282
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 8.158508158508159e-4
allele num: 8580
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.33e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.114e0

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.87e-1

QD
type: SiteQuality
SIO_000300: 1.183e1

DP
type: SiteQuality
SIO_000300: 1.643541e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.5e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 267
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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: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 51

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6390
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.136363636363636e-3
allele num: 880
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.980982567353407e-4
allele num: 10096
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65282
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.165501165501166e-4
allele num: 8580
num of homozygotes: 0

South Asian
type: Population
allele count: 47
allele frequency: 2.852287899016871e-3
allele num: 16478
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.183e1

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.5e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

FS
type: SiteQuality
SIO_000300: 6.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.114e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.87e-1

DP
type: SiteQuality
SIO_000300: 1.643541e6

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 156
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GenotypeQuality
all individuals: 1304
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GenotypeQuality
all individuals: 144
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GenotypeQuality
all individuals: 5982
bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 287
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GenotypeQuality
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GenotypeQuality
all individuals: 3390
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variant carriers: 0

GenotypeQuality
all individuals: 71
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variant carriers: 0

GenotypeQuality
all individuals: 4071
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65294
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6390
num of homozygotes: 0

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

South Asian
type: Population
allele count: 6
allele frequency: 3.642102707296346e-4
allele num: 16474
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.45e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 3.086e0

QD
type: SiteQuality
SIO_000300: 1.412e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.604e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 1.644241e6

GenotypeQuality
all individuals: 64
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1917
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1518
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3423
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1226
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29196
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4104
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3104
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10116
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65388
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6414
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.164958061509786e-4
allele num: 8584
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.04e-1

FS
type: SiteQuality
SIO_000300: 2.148e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 1.494e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.875e0

DP
type: SiteQuality
SIO_000300: 1.646724e6

GenotypeQuality
all individuals: 339
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8123
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 359
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29048
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4082
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1913
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6070
bin: 9.75e1
variant carriers: 113

GenotypeQuality
all individuals: 1197
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3389
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 10
allele frequency: 1.5625e-3
allele num: 6400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 104
allele frequency: 1.590895184482653e-3
allele num: 65372
num of homozygotes: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.891196834817012e-5
allele num: 10110
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.129e0

DP
type: SiteQuality
SIO_000300: 1.650834e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

QD
type: SiteQuality
SIO_000300: 1.336e1

VQSLOD
type: SiteQuality
SIO_000300: 5.8e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.33e-1

GenotypeQuality
all individuals: 8180
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6033
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 339
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4107
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29144
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3098
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1527
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3412
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.056795255853763e-5
allele num: 65428
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.163873370577281e-4
allele num: 8592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10126
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.213444970270598e-4
allele num: 16482
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.38e-1

FS
type: SiteQuality
SIO_000300: 2.29e0

DP
type: SiteQuality
SIO_000300: 1.652235e6

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e0

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 1.517e1

GenotypeQuality
all individuals: 140
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29401
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8215
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1131
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1925
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3111
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3433
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1526
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10146
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526018617427133e-5
allele num: 65530
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.653423e6

MQRankSum
type: SiteQuality
SIO_000300: 1.53e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.915e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.178e0

VQSLOD
type: SiteQuality
SIO_000300: -1.576e-1

FS
type: SiteQuality
SIO_000300: 6.603e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

QD
type: SiteQuality
SIO_000300: 1.204e1