http://identifiers.org/exac.variant/12-2659839-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2659839
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2659839
    reference: chr 12
allele count: 1
allele frequency: 1.089728221781488e-5
allele num: 91766
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382530
  ensembl transcript: ENST00000399621
  gene symbol: CACNA1C
  hgvsc: ENST00000399621.1:c.1481+640A>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1481+640A>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1481+640A>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1481+640A>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1481+640A>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1481+640A>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1481+640A>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1481+640A>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1481+640A>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1481+640A>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1481+640A>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1481+640A>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.1556+640A>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1481+640A>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1481+640A>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1481+640A>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1481+640A>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1481+640A>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1481+640A>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1481+640A>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382506
  ensembl transcript: ENST00000399597
  gene symbol: CACNA1C
  hgvsc: ENST00000399597.1:c.1481+640A>C
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

12-2659848-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2659848
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2659848
    reference: chr 12
allele count: 84576
allele frequency: 9.520036019810896e-1
allele num: 88840
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1481+649T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1481+649T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1481+649T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1481+649T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1481+649T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1481+649T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1481+649T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1481+649T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1481+649T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1481+649T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1481+649T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1481+649T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl transcript: ENST00000491104
  gene symbol: CACNA1C
  hgvsc: ENST00000491104.1:n.481+26T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1481+649T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1481+649T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382530
  ensembl transcript: ENST00000399621
  gene symbol: CACNA1C
  hgvsc: ENST00000399621.1:c.1481+649T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1481+649T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382506
  ensembl transcript: ENST00000399597
  gene symbol: CACNA1C
  hgvsc: ENST00000399597.1:c.1481+649T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1481+649T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1481+649T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1481+649T>C
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 40287
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

http://identifiers.org/exac.variant/12-2659855-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2659855
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2659854
    reference: chr 12
allele count: 16
allele frequency: 2.781447743550518e-4
allele num: 57524
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1481+658delC
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1481+658delC
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1481+658delC
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1481+658delC
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.1556+658delC
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1481+658delC
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1481+658delC
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1481+658delC
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl transcript: ENST00000491104
  gene symbol: CACNA1C
  hgvsc: ENST00000491104.1:n.481+35delC
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1481+658delC
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1481+658delC
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1481+658delC
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1481+658delC
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1481+658delC
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1481+658delC
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1481+658delC
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382506
  ensembl transcript: ENST00000399597
  gene symbol: CACNA1C
  hgvsc: ENST00000399597.1:c.1481+658delC
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1481+658delC
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1481+658delC
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1481+658delC
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1481+658delC
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: AC
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-2659859-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2659859
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2659859
    reference: chr 12
allele count: 1
allele frequency: 1.957483459264769e-5
allele num: 51086
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1481+660G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1481+660G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1481+660G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1481+660G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1481+660G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1481+660G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382530
  ensembl transcript: ENST00000399621
  gene symbol: CACNA1C
  hgvsc: ENST00000399621.1:c.1481+660G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1481+660G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1481+660G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1481+660G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1481+660G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1481+660G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1481+660G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1481+660G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.1556+660G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1481+660G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1481+660G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1481+660G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl transcript: ENST00000491104
  gene symbol: CACNA1C
  hgvsc: ENST00000491104.1:n.481+37G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1481+660G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1481+660G>A
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum

12-2659859-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2659859
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2659859
    reference: chr 12
allele count: 1
allele frequency: 1.957483459264769e-5
allele num: 51086
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1481+660G>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1481+660G>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1481+660G>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1481+660G>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1481+660G>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1481+660G>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1481+660G>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.1556+660G>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1481+660G>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1481+660G>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1481+660G>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1481+660G>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1481+660G>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1481+660G>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1481+660G>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382530
  ensembl transcript: ENST00000399621
  gene symbol: CACNA1C
  hgvsc: ENST00000399621.1:c.1481+660G>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1481+660G>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl transcript: ENST00000491104
  gene symbol: CACNA1C
  hgvsc: ENST00000491104.1:n.481+37G>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382506
  ensembl transcript: ENST00000399597
  gene symbol: CACNA1C
  hgvsc: ENST00000399597.1:c.1481+660G>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1481+660G>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1481+660G>C
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

12-2659859-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2659859
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2659859
    reference: chr 12
allele count: 2
allele frequency: 3.914966918529539e-5
allele num: 51086
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1481+660G>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1481+660G>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1481+660G>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1481+660G>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl transcript: ENST00000491104
  gene symbol: CACNA1C
  hgvsc: ENST00000491104.1:n.481+37G>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1481+660G>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1481+660G>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1481+660G>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382530
  ensembl transcript: ENST00000399621
  gene symbol: CACNA1C
  hgvsc: ENST00000399621.1:c.1481+660G>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1481+660G>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1481+660G>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1481+660G>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1481+660G>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1481+660G>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1481+660G>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1481+660G>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.1556+660G>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382506
  ensembl transcript: ENST00000399597
  gene symbol: CACNA1C
  hgvsc: ENST00000399597.1:c.1481+660G>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1481+660G>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1481+660G>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1481+660G>T
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-2659861-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2659861
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2659861
    reference: chr 12
allele count: 1
allele frequency: 1.959094114881279e-5
allele num: 51044
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1481+662G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1481+662G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382506
  ensembl transcript: ENST00000399597
  gene symbol: CACNA1C
  hgvsc: ENST00000399597.1:c.1481+662G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1481+662G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1481+662G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1481+662G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1481+662G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1481+662G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1481+662G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1481+662G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1481+662G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1481+662G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1481+662G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1481+662G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl transcript: ENST00000491104
  gene symbol: CACNA1C
  hgvsc: ENST00000491104.1:n.481+39G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1481+662G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1481+662G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.1556+662G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382530
  ensembl transcript: ENST00000399621
  gene symbol: CACNA1C
  hgvsc: ENST00000399621.1:c.1481+662G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1481+662G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1481+662G>A
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD

12-2659865-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2659865
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2659865
    reference: chr 12
allele count: 12
allele frequency: 3.180998833633761e-4
allele num: 37724
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1481+666C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1481+666C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1481+666C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1481+666C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1481+666C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1481+666C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1481+666C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1481+666C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1481+666C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1481+666C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1481+666C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl transcript: ENST00000491104
  gene symbol: CACNA1C
  hgvsc: ENST00000491104.1:n.481+43C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1481+666C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1481+666C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1481+666C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1481+666C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1481+666C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1481+666C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1481+666C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1481+666C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.1556+666C>T
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

12-2659866-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2659866
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2659866
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 37820
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1481+667G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1481+667G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1481+667G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1481+667G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1481+667G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1481+667G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1481+667G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1481+667G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1481+667G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1481+667G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1481+667G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl transcript: ENST00000491104
  gene symbol: CACNA1C
  hgvsc: ENST00000491104.1:n.481+44G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1481+667G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1481+667G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1481+667G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.1556+667G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1481+667G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1481+667G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382530
  ensembl transcript: ENST00000399621
  gene symbol: CACNA1C
  hgvsc: ENST00000399621.1:c.1481+667G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1481+667G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1481+667G>A
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD

12-2659873-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2659873
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2659873
    reference: chr 12
allele count: 7
allele frequency: 2.039389348560774e-4
allele num: 34324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1481+674G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1481+674G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1481+674G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1481+674G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1481+674G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1481+674G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1481+674G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1481+674G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1481+674G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1481+674G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1481+674G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1481+674G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1481+674G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1481+674G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1481+674G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1481+674G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1481+674G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1481+674G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl transcript: ENST00000491104
  gene symbol: CACNA1C
  hgvsc: ENST00000491104.1:n.481+51G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1481+674G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1481+674G>A
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

12-2659875-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2659875
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2659875
    reference: chr 12
allele count: 3
allele frequency: 9.19793966151582e-5
allele num: 32616
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382530
  ensembl transcript: ENST00000399621
  gene symbol: CACNA1C
  hgvsc: ENST00000399621.1:c.1481+676C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1481+676C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1481+676C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1481+676C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1481+676C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1481+676C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1481+676C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1481+676C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1481+676C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1481+676C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1481+676C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1481+676C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl transcript: ENST00000491104
  gene symbol: CACNA1C
  hgvsc: ENST00000491104.1:n.481+53C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1481+676C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1481+676C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1481+676C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1481+676C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1481+676C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1481+676C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1481+676C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1481+676C>T
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

12-2659876-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2659876
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2659876
    reference: chr 12
allele count: 1
allele frequency: 3.062411955656275e-5
allele num: 32654
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1481+677G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1481+677G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382530
  ensembl transcript: ENST00000399621
  gene symbol: CACNA1C
  hgvsc: ENST00000399621.1:c.1481+677G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1481+677G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1481+677G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1481+677G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1481+677G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1481+677G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1481+677G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1481+677G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.1556+677G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1481+677G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1481+677G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382506
  ensembl transcript: ENST00000399597
  gene symbol: CACNA1C
  hgvsc: ENST00000399597.1:c.1481+677G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1481+677G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1481+677G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1481+677G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1481+677G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1481+677G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1481+677G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1481+677G>A
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD

12-2666073-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2666073
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2666073
    reference: chr 12
allele count: 31
allele frequency: 2.57013994826557e-4
allele num: 120616
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1482-44C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1482-44C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1482-44C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl transcript: ENST00000491104
  gene symbol: CACNA1C
  hgvsc: ENST00000491104.1:n.482-44C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1482-44C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1482-44C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1482-44C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1482-44C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1482-44C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1482-44C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1482-44C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1482-44C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1482-44C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1482-44C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1482-44C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1482-44C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1482-44C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1482-44C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1482-44C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382530
  ensembl transcript: ENST00000399621
  gene symbol: CACNA1C
  hgvsc: ENST00000399621.1:c.1482-44C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1482-44C>T
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

12-2666074-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2666074
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2666074
    reference: chr 12
allele count: 8
allele frequency: 6.63129973474801e-5
allele num: 120640
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1482-43G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1482-43G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382530
  ensembl transcript: ENST00000399621
  gene symbol: CACNA1C
  hgvsc: ENST00000399621.1:c.1482-43G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1482-43G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1482-43G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.1557-43G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1482-43G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1482-43G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1482-43G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1482-43G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1482-43G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1482-43G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1482-43G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1482-43G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1482-43G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1482-43G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1482-43G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382506
  ensembl transcript: ENST00000399597
  gene symbol: CACNA1C
  hgvsc: ENST00000399597.1:c.1482-43G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1482-43G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl transcript: ENST00000491104
  gene symbol: CACNA1C
  hgvsc: ENST00000491104.1:n.482-43G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1482-43G>A
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

12-2666078-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2666078
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2666078
    reference: chr 12
allele count: 1
allele frequency: 8.288437629506838e-6
allele num: 120650
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1482-39G>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1482-39G>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1482-39G>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1482-39G>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl transcript: ENST00000491104
  gene symbol: CACNA1C
  hgvsc: ENST00000491104.1:n.482-39G>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1482-39G>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1482-39G>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1482-39G>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1482-39G>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382506
  ensembl transcript: ENST00000399597
  gene symbol: CACNA1C
  hgvsc: ENST00000399597.1:c.1482-39G>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1482-39G>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1482-39G>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1482-39G>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1482-39G>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1482-39G>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1482-39G>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1482-39G>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1482-39G>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1482-39G>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1482-39G>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1482-39G>T
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD

12-2666090-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2666090
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2666090
    reference: chr 12
allele count: 2
allele frequency: 1.657330372236402e-5
allele num: 120676
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1482-27T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1482-27T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1482-27T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1482-27T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1482-27T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1482-27T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1482-27T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.1557-27T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1482-27T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1482-27T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1482-27T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1482-27T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1482-27T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1482-27T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl transcript: ENST00000491104
  gene symbol: CACNA1C
  hgvsc: ENST00000491104.1:n.482-27T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1482-27T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1482-27T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1482-27T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382530
  ensembl transcript: ENST00000399621
  gene symbol: CACNA1C
  hgvsc: ENST00000399621.1:c.1482-27T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1482-27T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1482-27T>C
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

12-2666102-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2666102
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2666103
    reference: chr 12
allele count: 1
allele frequency: 8.284455048546906e-6
allele num: 120708
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1482-10dupT
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1482-10dupT
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.1557-10dupT
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1482-10dupT
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1482-10dupT
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1482-10dupT
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1482-10dupT
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1482-10dupT
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1482-10dupT
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1482-10dupT
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1482-10dupT
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1482-10dupT
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1482-10dupT
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1482-10dupT
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1482-10dupT
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382506
  ensembl transcript: ENST00000399597
  gene symbol: CACNA1C
  hgvsc: ENST00000399597.1:c.1482-10dupT
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382530
  ensembl transcript: ENST00000399621
  gene symbol: CACNA1C
  hgvsc: ENST00000399621.1:c.1482-10dupT
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1482-10dupT
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1482-10dupT
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1482-10dupT
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1482-10dupT
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/12-2666120-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2666120
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2666120
    reference: chr 12
allele count: 5
allele frequency: 4.141609926610672e-5
allele num: 120726
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1485C>A
  hgvsp: ENSP00000382546.1:p.His495Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.1560C>A
  hgvsp: ENSP00000336982.5:p.His520Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1485C>A
  hgvsp: ENSP00000382515.1:p.His495Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1485C>A
  hgvsp: ENSP00000382526.1:p.His495Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1485C>A
  hgvsp: ENSP00000382500.1:p.His495Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1485C>A
  hgvsp: ENSP00000382510.1:p.His495Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1485C>A
  hgvsp: ENSP00000266376.6:p.His495Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1485C>A
  hgvsp: ENSP00000329877.7:p.His495Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1485C>A
  hgvsp: ENSP00000382557.1:p.His495Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1485C>A
  hgvsp: ENSP00000382504.1:p.His495Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1485C>A
  hgvsp: ENSP00000341092.3:p.His495Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1485C>A
  hgvsp: ENSP00000385724.3:p.His495Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1485C>A
  hgvsp: ENSP00000382512.1:p.His495Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1485C>A
  hgvsp: ENSP00000382549.1:p.His495Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1485C>A
  hgvsp: ENSP00000382552.1:p.His495Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1485C>A
  hgvsp: ENSP00000382547.1:p.His495Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382506
  ensembl transcript: ENST00000399597
  gene symbol: CACNA1C
  hgvsc: ENST00000399597.1:c.1485C>A
  hgvsp: ENSP00000382506.1:p.His495Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1485C>A
  hgvsp: ENSP00000385896.3:p.His495Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1485C>A
  hgvsp: ENSP00000437936.1:p.His495Gln
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His495Gln
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

12-2666121-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2666121
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2666121
    reference: chr 12
allele count: 5
allele frequency: 4.141609926610672e-5
allele num: 120726
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382530
  ensembl transcript: ENST00000399621
  gene symbol: CACNA1C
  hgvsc: ENST00000399621.1:c.1486C>T
  hgvsp: ENSP00000382530.1:p.Arg496Trp
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1486C>T
  hgvsp: ENSP00000382500.1:p.Arg496Trp
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1486C>T
  hgvsp: ENSP00000329877.7:p.Arg496Trp
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1486C>T
  hgvsp: ENSP00000385896.3:p.Arg496Trp
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1486C>T
  hgvsp: ENSP00000382557.1:p.Arg496Trp
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1486C>T
  hgvsp: ENSP00000382504.1:p.Arg496Trp
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1486C>T
  hgvsp: ENSP00000341092.3:p.Arg496Trp
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1486C>T
  hgvsp: ENSP00000385724.3:p.Arg496Trp
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1486C>T
  hgvsp: ENSP00000382552.1:p.Arg496Trp
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1486C>T
  hgvsp: ENSP00000382537.1:p.Arg496Trp
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1486C>T
  hgvsp: ENSP00000382549.1:p.Arg496Trp
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1486C>T
  hgvsp: ENSP00000382512.1:p.Arg496Trp
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1486C>T
  hgvsp: ENSP00000266376.6:p.Arg496Trp
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1486C>T
  hgvsp: ENSP00000382526.1:p.Arg496Trp
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1486C>T
  hgvsp: ENSP00000437936.1:p.Arg496Trp
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1486C>T
  hgvsp: ENSP00000382515.1:p.Arg496Trp
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1486C>T
  hgvsp: ENSP00000382546.1:p.Arg496Trp
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1486C>T
  hgvsp: ENSP00000382510.1:p.Arg496Trp
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1486C>T
  hgvsp: ENSP00000382547.1:p.Arg496Trp
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg496Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

12-2666122-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2666122
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2666122
    reference: chr 12
allele count: 6
allele frequency: 4.969849579219402e-5
allele num: 120728
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1487G>A
  hgvsp: ENSP00000382515.1:p.Arg496Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1487G>A
  hgvsp: ENSP00000382563.1:p.Arg496Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1487G>A
  hgvsp: ENSP00000341092.3:p.Arg496Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1487G>A
  hgvsp: ENSP00000385724.3:p.Arg496Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1487G>A
  hgvsp: ENSP00000266376.6:p.Arg496Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1487G>A
  hgvsp: ENSP00000382549.1:p.Arg496Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1487G>A
  hgvsp: ENSP00000382557.1:p.Arg496Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1487G>A
  hgvsp: ENSP00000329877.7:p.Arg496Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382530
  ensembl transcript: ENST00000399621
  gene symbol: CACNA1C
  hgvsc: ENST00000399621.1:c.1487G>A
  hgvsp: ENSP00000382530.1:p.Arg496Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.1562G>A
  hgvsp: ENSP00000336982.5:p.Arg521Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1487G>A
  hgvsp: ENSP00000385896.3:p.Arg496Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151067
  ensembl transcript: ENST00000491104
  gene symbol: CACNA1C
  hgvsc: ENST00000491104.1:n.487G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1487G>A
  hgvsp: ENSP00000382552.1:p.Arg496Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1487G>A
  hgvsp: ENSP00000382510.1:p.Arg496Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1487G>A
  hgvsp: ENSP00000382537.1:p.Arg496Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1487G>A
  hgvsp: ENSP00000382504.1:p.Arg496Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1487G>A
  hgvsp: ENSP00000382542.1:p.Arg496Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1487G>A
  hgvsp: ENSP00000437936.1:p.Arg496Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382506
  ensembl transcript: ENST00000399597
  gene symbol: CACNA1C
  hgvsc: ENST00000399597.1:c.1487G>A
  hgvsp: ENSP00000382506.1:p.Arg496Gln
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg496Gln
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

12-2666158-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2666158
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2666158
    reference: chr 12
allele count: 8
allele frequency: 6.628113141891332e-5
allele num: 120698
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1508+15C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl transcript: ENST00000491104
  gene symbol: CACNA1C
  hgvsc: ENST00000491104.1:n.508+15C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382530
  ensembl transcript: ENST00000399621
  gene symbol: CACNA1C
  hgvsc: ENST00000399621.1:c.1508+15C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.1583+15C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1508+15C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1508+15C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1508+15C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1508+15C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1508+15C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382506
  ensembl transcript: ENST00000399597
  gene symbol: CACNA1C
  hgvsc: ENST00000399597.1:c.1508+15C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1508+15C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1508+15C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1508+15C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1508+15C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1508+15C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1508+15C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1508+15C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1508+15C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1508+15C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1508+15C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1508+15C>T
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
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: VQSLOD
site quality: MQ

12-2666162-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2666162
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2666162
    reference: chr 12
allele count: 1
allele frequency: 8.285141427364165e-6
allele num: 120698
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl transcript: ENST00000491104
  gene symbol: CACNA1C
  hgvsc: ENST00000491104.1:n.508+19G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382530
  ensembl transcript: ENST00000399621
  gene symbol: CACNA1C
  hgvsc: ENST00000399621.1:c.1508+19G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1508+19G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1508+19G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1508+19G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382506
  ensembl transcript: ENST00000399597
  gene symbol: CACNA1C
  hgvsc: ENST00000399597.1:c.1508+19G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1508+19G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1508+19G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1508+19G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1508+19G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1508+19G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.1583+19G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1508+19G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1508+19G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1508+19G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1508+19G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1508+19G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1508+19G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1508+19G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1508+19G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1508+19G>A
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

12-2666169-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2666169
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2666169
    reference: chr 12
allele count: 1
allele frequency: 8.287888080359362e-6
allele num: 120658
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1508+26C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1508+26C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382506
  ensembl transcript: ENST00000399597
  gene symbol: CACNA1C
  hgvsc: ENST00000399597.1:c.1508+26C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1508+26C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1508+26C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1508+26C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1508+26C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1508+26C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1508+26C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1508+26C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1508+26C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1508+26C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1508+26C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1508+26C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1508+26C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1508+26C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1508+26C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.1583+26C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1508+26C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl transcript: ENST00000491104
  gene symbol: CACNA1C
  hgvsc: ENST00000491104.1:n.508+26C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1508+26C>T
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

12-2666176-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2666176
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2666176
    reference: chr 12
allele count: 3
allele frequency: 2.486572508454347e-5
allele num: 120648
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1508+33C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1508+33C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1508+33C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1508+33C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1508+33C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1508+33C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1508+33C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1508+33C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1508+33C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382506
  ensembl transcript: ENST00000399597
  gene symbol: CACNA1C
  hgvsc: ENST00000399597.1:c.1508+33C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1508+33C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1508+33C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1508+33C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl transcript: ENST00000491104
  gene symbol: CACNA1C
  hgvsc: ENST00000491104.1:n.508+33C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1508+33C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1508+33C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1508+33C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1508+33C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382530
  ensembl transcript: ENST00000399621
  gene symbol: CACNA1C
  hgvsc: ENST00000399621.1:c.1508+33C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1508+33C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1508+33C>T
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

12-2666186-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2666186
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2666186
    reference: chr 12
allele count: 1
allele frequency: 8.290911502810618e-6
allele num: 120614
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1508+43C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1508+43C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1508+43C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1508+43C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1508+43C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1508+43C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1508+43C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1508+43C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382506
  ensembl transcript: ENST00000399597
  gene symbol: CACNA1C
  hgvsc: ENST00000399597.1:c.1508+43C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1508+43C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl transcript: ENST00000491104
  gene symbol: CACNA1C
  hgvsc: ENST00000491104.1:n.508+43C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1508+43C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1508+43C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1508+43C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1508+43C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1508+43C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1508+43C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1508+43C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1508+43C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.1583+43C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1508+43C>T
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

12-2675544-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2675544
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2675544
    reference: chr 12
allele count: 1
allele frequency: 3.867275117951891e-5
allele num: 25858
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1509-44A>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382530
  ensembl transcript: ENST00000399621
  gene symbol: CACNA1C
  hgvsc: ENST00000399621.1:c.1509-44A>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1509-44A>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1509-44A>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1509-44A>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1509-44A>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1509-44A>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1509-44A>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.1584-44A>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1509-44A>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1509-44A>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1509-44A>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1509-44A>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1509-44A>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1509-44A>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1509-44A>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1509-44A>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1509-44A>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1509-44A>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382506
  ensembl transcript: ENST00000399597
  gene symbol: CACNA1C
  hgvsc: ENST00000399597.1:c.1509-44A>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1509-44A>T
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

12-2675545-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2675545
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2675545
    reference: chr 12
allele count: 26
allele frequency: 1.004947433518862e-3
allele num: 25872
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1509-43A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1509-43A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1509-43A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1509-43A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1509-43A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.1584-43A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1509-43A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1509-43A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1509-43A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1509-43A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1509-43A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382530
  ensembl transcript: ENST00000399621
  gene symbol: CACNA1C
  hgvsc: ENST00000399621.1:c.1509-43A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1509-43A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1509-43A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1509-43A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1509-43A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1509-43A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1509-43A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382506
  ensembl transcript: ENST00000399597
  gene symbol: CACNA1C
  hgvsc: ENST00000399597.1:c.1509-43A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1509-43A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl transcript: ENST00000491104
  gene symbol: CACNA1C
  hgvsc: ENST00000491104.1:n.509-43A>G
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum

12-2675550-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2675550
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2675550
    reference: chr 12
allele count: 1
allele frequency: 3.844083954793573e-5
allele num: 26014
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.1584-38C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382506
  ensembl transcript: ENST00000399597
  gene symbol: CACNA1C
  hgvsc: ENST00000399597.1:c.1509-38C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1509-38C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1509-38C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1509-38C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1509-38C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1509-38C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl transcript: ENST00000491104
  gene symbol: CACNA1C
  hgvsc: ENST00000491104.1:n.509-38C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1509-38C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1509-38C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1509-38C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1509-38C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1509-38C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1509-38C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1509-38C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1509-38C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1509-38C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1509-38C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382530
  ensembl transcript: ENST00000399621
  gene symbol: CACNA1C
  hgvsc: ENST00000399621.1:c.1509-38C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1509-38C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1509-38C>T
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-2675556-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2675556
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2675556
    reference: chr 12
allele count: 1
allele frequency: 3.776149837625557e-5
allele num: 26482
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1509-32A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382530
  ensembl transcript: ENST00000399621
  gene symbol: CACNA1C
  hgvsc: ENST00000399621.1:c.1509-32A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1509-32A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1509-32A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1509-32A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1509-32A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl transcript: ENST00000491104
  gene symbol: CACNA1C
  hgvsc: ENST00000491104.1:n.509-32A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1509-32A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1509-32A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1509-32A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1509-32A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1509-32A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1509-32A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1509-32A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1509-32A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1509-32A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1509-32A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1509-32A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382506
  ensembl transcript: ENST00000399597
  gene symbol: CACNA1C
  hgvsc: ENST00000399597.1:c.1509-32A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1509-32A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1509-32A>G
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/12-2675557-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2675557
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2675557
    reference: chr 12
allele count: 3
allele frequency: 1.093932322053676e-4
allele num: 27424
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1509-31C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1509-31C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1509-31C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1509-31C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1509-31C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1509-31C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1509-31C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1509-31C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1509-31C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1509-31C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl transcript: ENST00000491104
  gene symbol: CACNA1C
  hgvsc: ENST00000491104.1:n.509-31C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1509-31C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1509-31C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1509-31C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1509-31C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1509-31C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1509-31C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1509-31C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1509-31C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382530
  ensembl transcript: ENST00000399621
  gene symbol: CACNA1C
  hgvsc: ENST00000399621.1:c.1509-31C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1509-31C>A
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD

12-2675561-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2675561
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2675561
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 27300
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1509-27A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1509-27A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1509-27A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1509-27A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1509-27A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1509-27A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1509-27A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl transcript: ENST00000491104
  gene symbol: CACNA1C
  hgvsc: ENST00000491104.1:n.509-27A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1509-27A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1509-27A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1509-27A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1509-27A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1509-27A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1509-27A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1509-27A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.1584-27A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382530
  ensembl transcript: ENST00000399621
  gene symbol: CACNA1C
  hgvsc: ENST00000399621.1:c.1509-27A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1509-27A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1509-27A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1509-27A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1509-27A>G
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/12-2675571-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2675571
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2675571
    reference: chr 12
allele count: 1
allele frequency: 3.166962249809982e-5
allele num: 31576
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1509-17C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1509-17C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1509-17C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1509-17C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1509-17C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1509-17C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1509-17C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1509-17C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1509-17C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1509-17C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382530
  ensembl transcript: ENST00000399621
  gene symbol: CACNA1C
  hgvsc: ENST00000399621.1:c.1509-17C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1509-17C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1509-17C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1509-17C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1509-17C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1509-17C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1509-17C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1509-17C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1509-17C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1509-17C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl transcript: ENST00000491104
  gene symbol: CACNA1C
  hgvsc: ENST00000491104.1:n.509-17C>A
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

12-2675575-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2675575
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2675575
    reference: chr 12
allele count: 1
allele frequency: 3.038405444822557e-5
allele num: 32912
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1509-13G>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1509-13G>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1509-13G>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1509-13G>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1509-13G>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.1584-13G>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1509-13G>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1509-13G>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382530
  ensembl transcript: ENST00000399621
  gene symbol: CACNA1C
  hgvsc: ENST00000399621.1:c.1509-13G>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl transcript: ENST00000491104
  gene symbol: CACNA1C
  hgvsc: ENST00000491104.1:n.509-13G>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1509-13G>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1509-13G>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1509-13G>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1509-13G>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1509-13G>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1509-13G>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1509-13G>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1509-13G>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1509-13G>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1509-13G>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1509-13G>C
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

12-2675576-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2675576
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2675576
    reference: chr 12
allele count: 9
allele frequency: 2.719361856417694e-4
allele num: 33096
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1509-12T>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1509-12T>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1509-12T>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1509-12T>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1509-12T>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1509-12T>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1509-12T>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1509-12T>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1509-12T>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1509-12T>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1509-12T>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1509-12T>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1509-12T>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1509-12T>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl transcript: ENST00000491104
  gene symbol: CACNA1C
  hgvsc: ENST00000491104.1:n.509-12T>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1509-12T>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1509-12T>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1509-12T>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1509-12T>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.1584-12T>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1509-12T>G
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-2675583-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2675583
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2675583
    reference: chr 12
allele count: 8
allele frequency: 2.442449777126458e-4
allele num: 32754
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1509-5T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1509-5T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1509-5T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1509-5T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1509-5T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1509-5T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1509-5T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1509-5T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1509-5T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1509-5T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1509-5T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1509-5T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.1584-5T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl transcript: ENST00000491104
  gene symbol: CACNA1C
  hgvsc: ENST00000491104.1:n.509-5T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1509-5T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1509-5T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1509-5T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1509-5T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1509-5T>C
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.1509-5T>C
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

12-2675590-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2675590
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2675590
    reference: chr 12
allele count: 1
allele frequency: 2.418613650655444e-5
allele num: 41346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1511G>A
  hgvsp: ENSP00000382542.1:p.Arg504His
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1511G>A
  hgvsp: ENSP00000382552.1:p.Arg504His
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.1586G>A
  hgvsp: ENSP00000336982.5:p.Arg529His
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1511G>A
  hgvsp: ENSP00000266376.6:p.Arg504His
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1511G>A
  hgvsp: ENSP00000382515.1:p.Arg504His
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1511G>A
  hgvsp: ENSP00000382546.1:p.Arg504His
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1511G>A
  hgvsp: ENSP00000382504.1:p.Arg504His
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1511G>A
  hgvsp: ENSP00000385896.3:p.Arg504His
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1511G>A
  hgvsp: ENSP00000382563.1:p.Arg504His
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1511G>A
  hgvsp: ENSP00000382510.1:p.Arg504His
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1511G>A
  hgvsp: ENSP00000382512.1:p.Arg504His
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1511G>A
  hgvsp: ENSP00000382526.1:p.Arg504His
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1511G>A
  hgvsp: ENSP00000382500.1:p.Arg504His
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1511G>A
  hgvsp: ENSP00000382547.1:p.Arg504His
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1511G>A
  hgvsp: ENSP00000382557.1:p.Arg504His
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1511G>A
  hgvsp: ENSP00000437936.1:p.Arg504His
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382506
  ensembl transcript: ENST00000399597
  gene symbol: CACNA1C
  hgvsc: ENST00000399597.1:c.1511G>A
  hgvsp: ENSP00000382506.1:p.Arg504His
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg504His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

12-2675599-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2675599
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2675599
    reference: chr 12
allele count: 4
allele frequency: 9.060843564535858e-5
allele num: 44146
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.1595G>A
  hgvsp: ENSP00000336982.5:p.Arg532His
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1520G>A
  hgvsp: ENSP00000382510.1:p.Arg507His
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382506
  ensembl transcript: ENST00000399597
  gene symbol: CACNA1C
  hgvsc: ENST00000399597.1:c.1520G>A
  hgvsp: ENSP00000382506.1:p.Arg507His
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1520G>A
  hgvsp: ENSP00000382537.1:p.Arg507His
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1520G>A
  hgvsp: ENSP00000382557.1:p.Arg507His
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1520G>A
  hgvsp: ENSP00000382504.1:p.Arg507His
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1520G>A
  hgvsp: ENSP00000382552.1:p.Arg507His
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1520G>A
  hgvsp: ENSP00000382546.1:p.Arg507His
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1520G>A
  hgvsp: ENSP00000341092.3:p.Arg507His
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1520G>A
  hgvsp: ENSP00000385896.3:p.Arg507His
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1520G>A
  hgvsp: ENSP00000266376.6:p.Arg507His
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1520G>A
  hgvsp: ENSP00000382526.1:p.Arg507His
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1520G>A
  hgvsp: ENSP00000382515.1:p.Arg507His
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382530
  ensembl transcript: ENST00000399621
  gene symbol: CACNA1C
  hgvsc: ENST00000399621.1:c.1520G>A
  hgvsp: ENSP00000382530.1:p.Arg507His
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1520G>A
  hgvsp: ENSP00000329877.7:p.Arg507His
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1520G>A
  hgvsp: ENSP00000382563.1:p.Arg507His
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151067
  ensembl transcript: ENST00000491104
  gene symbol: CACNA1C
  hgvsc: ENST00000491104.1:n.520G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1520G>A
  hgvsp: ENSP00000437936.1:p.Arg507His
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1520G>A
  hgvsp: ENSP00000385724.3:p.Arg507His
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg507His
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ

12-2675601-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2675601
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2675601
    reference: chr 12
allele count: 1
allele frequency: 2.243863034600368e-5
allele num: 44566
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1522C>T
  hgvsp: ENSP00000266376.6:p.Arg508Trp
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1522C>T
  hgvsp: ENSP00000382549.1:p.Arg508Trp
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1522C>T
  hgvsp: ENSP00000437936.1:p.Arg508Trp
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382506
  ensembl transcript: ENST00000399597
  gene symbol: CACNA1C
  hgvsc: ENST00000399597.1:c.1522C>T
  hgvsp: ENSP00000382506.1:p.Arg508Trp
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1522C>T
  hgvsp: ENSP00000385896.3:p.Arg508Trp
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1522C>T
  hgvsp: ENSP00000341092.3:p.Arg508Trp
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1522C>T
  hgvsp: ENSP00000382515.1:p.Arg508Trp
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1522C>T
  hgvsp: ENSP00000382542.1:p.Arg508Trp
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1522C>T
  hgvsp: ENSP00000382537.1:p.Arg508Trp
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1522C>T
  hgvsp: ENSP00000382504.1:p.Arg508Trp
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1522C>T
  hgvsp: ENSP00000329877.7:p.Arg508Trp
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1522C>T
  hgvsp: ENSP00000385724.3:p.Arg508Trp
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1522C>T
  hgvsp: ENSP00000382512.1:p.Arg508Trp
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1522C>T
  hgvsp: ENSP00000382510.1:p.Arg508Trp
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1522C>T
  hgvsp: ENSP00000382557.1:p.Arg508Trp
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1522C>T
  hgvsp: ENSP00000382526.1:p.Arg508Trp
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1522C>T
  hgvsp: ENSP00000382552.1:p.Arg508Trp
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1522C>T
  hgvsp: ENSP00000382547.1:p.Arg508Trp
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1522C>T
  hgvsp: ENSP00000382500.1:p.Arg508Trp
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg508Trp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum

12-2675602-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2675602
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2675602
    reference: chr 12
allele count: 2
allele frequency: 4.458712323880864e-5
allele num: 44856
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1523G>A
  hgvsp: ENSP00000382504.1:p.Arg508Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1523G>A
  hgvsp: ENSP00000382549.1:p.Arg508Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1523G>A
  hgvsp: ENSP00000385896.3:p.Arg508Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1523G>A
  hgvsp: ENSP00000382500.1:p.Arg508Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1523G>A
  hgvsp: ENSP00000382526.1:p.Arg508Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1523G>A
  hgvsp: ENSP00000329877.7:p.Arg508Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1523G>A
  hgvsp: ENSP00000382537.1:p.Arg508Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1523G>A
  hgvsp: ENSP00000382547.1:p.Arg508Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1523G>A
  hgvsp: ENSP00000385724.3:p.Arg508Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1523G>A
  hgvsp: ENSP00000382512.1:p.Arg508Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1523G>A
  hgvsp: ENSP00000382546.1:p.Arg508Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1523G>A
  hgvsp: ENSP00000382552.1:p.Arg508Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1523G>A
  hgvsp: ENSP00000382510.1:p.Arg508Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1523G>A
  hgvsp: ENSP00000382542.1:p.Arg508Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151067
  ensembl transcript: ENST00000491104
  gene symbol: CACNA1C
  hgvsc: ENST00000491104.1:n.523G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1523G>A
  hgvsp: ENSP00000437936.1:p.Arg508Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1523G>A
  hgvsp: ENSP00000382557.1:p.Arg508Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1523G>A
  hgvsp: ENSP00000341092.3:p.Arg508Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.1598G>A
  hgvsp: ENSP00000336982.5:p.Arg533Gln
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg508Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

12-2675603-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2675603
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2675603
    reference: chr 12
allele count: 5
allele frequency: 1.097020492342797e-4
allele num: 45578
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1524G>A
  hgvsp: ENST00000399644.1:c.1524G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1524G>A
  hgvsp: ENST00000399601.1:c.1524G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1524G>A
  hgvsp: ENST00000406454.3:c.1524G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1524G>A
  hgvsp: ENST00000344100.3:c.1524G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1524G>A
  hgvsp: ENST00000399595.1:c.1524G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1524G>A
  hgvsp: ENST00000399637.1:c.1524G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1524G>A
  hgvsp: ENST00000399603.1:c.1524G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1524G>A
  hgvsp: ENST00000399649.1:c.1524G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1524G>A
  hgvsp: ENST00000399655.1:c.1524G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1524G>A
  hgvsp: ENST00000399617.1:c.1524G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1524G>A
  hgvsp: ENST00000327702.7:c.1524G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1524G>A
  hgvsp: ENST00000347598.4:c.1524G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1524G>A
  hgvsp: ENST00000399606.1:c.1524G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1524G>A
  hgvsp: ENST00000399629.1:c.1524G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382530
  ensembl transcript: ENST00000399621
  gene symbol: CACNA1C
  hgvsc: ENST00000399621.1:c.1524G>A
  hgvsp: ENST00000399621.1:c.1524G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382506
  ensembl transcript: ENST00000399597
  gene symbol: CACNA1C
  hgvsc: ENST00000399597.1:c.1524G>A
  hgvsp: ENST00000399597.1:c.1524G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1524G>A
  hgvsp: ENST00000402845.3:c.1524G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1524G>A
  hgvsp: ENST00000399641.1:c.1524G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1524G>A
  hgvsp: ENST00000399591.1:c.1524G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg508Arg
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS

12-2675627-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2675627
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2675627
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 49720
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1548G>C
  hgvsp: ENSP00000382526.1:p.Lys516Asn
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1548G>C
  hgvsp: ENSP00000382546.1:p.Lys516Asn
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1548G>C
  hgvsp: ENSP00000385896.3:p.Lys516Asn
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1548G>C
  hgvsp: ENSP00000329877.7:p.Lys516Asn
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1548G>C
  hgvsp: ENSP00000341092.3:p.Lys516Asn
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1548G>C
  hgvsp: ENSP00000266376.6:p.Lys516Asn
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1548G>C
  hgvsp: ENSP00000382504.1:p.Lys516Asn
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1548G>C
  hgvsp: ENSP00000382512.1:p.Lys516Asn
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1548G>C
  hgvsp: ENSP00000382542.1:p.Lys516Asn
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382506
  ensembl transcript: ENST00000399597
  gene symbol: CACNA1C
  hgvsc: ENST00000399597.1:c.1548G>C
  hgvsp: ENSP00000382506.1:p.Lys516Asn
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1548G>C
  hgvsp: ENSP00000437936.1:p.Lys516Asn
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1548G>C
  hgvsp: ENSP00000382552.1:p.Lys516Asn
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1548G>C
  hgvsp: ENSP00000382547.1:p.Lys516Asn
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.1623G>C
  hgvsp: ENSP00000336982.5:p.Lys541Asn
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1548G>C
  hgvsp: ENSP00000382549.1:p.Lys516Asn
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1548G>C
  hgvsp: ENSP00000382537.1:p.Lys516Asn
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1548G>C
  hgvsp: ENSP00000382563.1:p.Lys516Asn
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1548G>C
  hgvsp: ENSP00000382557.1:p.Lys516Asn
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151067
  ensembl transcript: ENST00000491104
  gene symbol: CACNA1C
  hgvsc: ENST00000491104.1:n.548G>C
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys516Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

12-2675633-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2675633
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2675633
    reference: chr 12
allele count: 4
allele frequency: 7.883016041937645e-5
allele num: 50742
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382506
  ensembl transcript: ENST00000399597
  gene symbol: CACNA1C
  hgvsc: ENST00000399597.1:c.1554C>T
  hgvsp: ENST00000399597.1:c.1554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1554C>T
  hgvsp: ENST00000399603.1:c.1554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1554C>T
  hgvsp: ENST00000402845.3:c.1554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1554C>T
  hgvsp: ENST00000344100.3:c.1554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1554C>T
  hgvsp: ENST00000399629.1:c.1554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1554C>T
  hgvsp: ENST00000399634.1:c.1554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151067
  ensembl transcript: ENST00000491104
  gene symbol: CACNA1C
  hgvsc: ENST00000491104.1:n.554C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1554C>T
  hgvsp: ENST00000399591.1:c.1554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1554C>T
  hgvsp: ENST00000399595.1:c.1554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1554C>T
  hgvsp: ENST00000399641.1:c.1554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382530
  ensembl transcript: ENST00000399621
  gene symbol: CACNA1C
  hgvsc: ENST00000399621.1:c.1554C>T
  hgvsp: ENST00000399621.1:c.1554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1554C>T
  hgvsp: ENST00000399606.1:c.1554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1554C>T
  hgvsp: ENST00000399601.1:c.1554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1554C>T
  hgvsp: ENST00000399644.1:c.1554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1554C>T
  hgvsp: ENST00000399638.1:c.1554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1554C>T
  hgvsp: ENST00000406454.3:c.1554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1554C>T
  hgvsp: ENST00000399617.1:c.1554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg518Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

12-2675634-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2675634
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2675634
    reference: chr 12
allele count: 3
allele frequency: 5.915992900808519e-5
allele num: 50710
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1555G>A
  hgvsp: ENSP00000382512.1:p.Ala519Thr
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382506
  ensembl transcript: ENST00000399597
  gene symbol: CACNA1C
  hgvsc: ENST00000399597.1:c.1555G>A
  hgvsp: ENSP00000382506.1:p.Ala519Thr
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1555G>A
  hgvsp: ENSP00000437936.1:p.Ala519Thr
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1555G>A
  hgvsp: ENSP00000382504.1:p.Ala519Thr
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1555G>A
  hgvsp: ENSP00000382549.1:p.Ala519Thr
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1555G>A
  hgvsp: ENSP00000382563.1:p.Ala519Thr
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1555G>A
  hgvsp: ENSP00000382552.1:p.Ala519Thr
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1555G>A
  hgvsp: ENSP00000382500.1:p.Ala519Thr
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1555G>A
  hgvsp: ENSP00000266376.6:p.Ala519Thr
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1555G>A
  hgvsp: ENSP00000382542.1:p.Ala519Thr
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1555G>A
  hgvsp: ENSP00000382526.1:p.Ala519Thr
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1555G>A
  hgvsp: ENSP00000382515.1:p.Ala519Thr
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1555G>A
  hgvsp: ENSP00000385724.3:p.Ala519Thr
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1555G>A
  hgvsp: ENSP00000382510.1:p.Ala519Thr
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1555G>A
  hgvsp: ENSP00000382557.1:p.Ala519Thr
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1555G>A
  hgvsp: ENSP00000385896.3:p.Ala519Thr
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382530
  ensembl transcript: ENST00000399621
  gene symbol: CACNA1C
  hgvsc: ENST00000399621.1:c.1555G>A
  hgvsp: ENSP00000382530.1:p.Ala519Thr
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1555G>A
  hgvsp: ENSP00000382537.1:p.Ala519Thr
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1555G>A
  hgvsp: ENSP00000341092.3:p.Ala519Thr
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala519Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-2675636-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2675636
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2675636
    reference: chr 12
allele count: 15
allele frequency: 2.937950485741147e-4
allele num: 51056
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1557C>A
  hgvsp: ENST00000399617.1:c.1557C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1557C>A
  hgvsp: ENST00000480911.1:c.1557C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382506
  ensembl transcript: ENST00000399597
  gene symbol: CACNA1C
  hgvsc: ENST00000399597.1:c.1557C>A
  hgvsp: ENST00000399597.1:c.1557C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1557C>A
  hgvsp: ENST00000399629.1:c.1557C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1557C>A
  hgvsp: ENST00000347598.4:c.1557C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1557C>A
  hgvsp: ENST00000399649.1:c.1557C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1557C>A
  hgvsp: ENST00000327702.7:c.1557C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1557C>A
  hgvsp: ENST00000406454.3:c.1557C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1557C>A
  hgvsp: ENST00000399591.1:c.1557C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.1632C>A
  hgvsp: ENST00000335762.5:c.1632C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1557C>A
  hgvsp: ENST00000399641.1:c.1557C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151067
  ensembl transcript: ENST00000491104
  gene symbol: CACNA1C
  hgvsc: ENST00000491104.1:n.557C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1557C>A
  hgvsp: ENST00000402845.3:c.1557C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1557C>A
  hgvsp: ENST00000399655.1:c.1557C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1557C>A
  hgvsp: ENST00000399644.1:c.1557C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1557C>A
  hgvsp: ENST00000399638.1:c.1557C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1557C>A
  hgvsp: ENST00000399634.1:c.1557C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1557C>A
  hgvsp: ENST00000399606.1:c.1557C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1557C>A
  hgvsp: ENST00000399637.1:c.1557C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala519Ala
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

12-2675636-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2675636
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2675636
    reference: chr 12
allele count: 6
allele frequency: 1.175180194296459e-4
allele num: 51056
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1557C>T
  hgvsp: ENST00000480911.1:c.1557C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1557C>T
  hgvsp: ENST00000399595.1:c.1557C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1557C>T
  hgvsp: ENST00000399606.1:c.1557C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1557C>T
  hgvsp: ENST00000406454.3:c.1557C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1557C>T
  hgvsp: ENST00000402845.3:c.1557C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1557C>T
  hgvsp: ENST00000399644.1:c.1557C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1557C>T
  hgvsp: ENST00000399655.1:c.1557C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1557C>T
  hgvsp: ENST00000399641.1:c.1557C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1557C>T
  hgvsp: ENST00000399617.1:c.1557C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382506
  ensembl transcript: ENST00000399597
  gene symbol: CACNA1C
  hgvsc: ENST00000399597.1:c.1557C>T
  hgvsp: ENST00000399597.1:c.1557C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1557C>T
  hgvsp: ENST00000347598.4:c.1557C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1557C>T
  hgvsp: ENST00000399637.1:c.1557C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1557C>T
  hgvsp: ENST00000399634.1:c.1557C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1557C>T
  hgvsp: ENST00000344100.3:c.1557C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1557C>T
  hgvsp: ENST00000399629.1:c.1557C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.1632C>T
  hgvsp: ENST00000335762.5:c.1632C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1557C>T
  hgvsp: ENST00000327702.7:c.1557C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1557C>T
  hgvsp: ENST00000399603.1:c.1557C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1557C>T
  hgvsp: ENST00000399591.1:c.1557C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala519Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

12-2675637-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2675637
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2675637
    reference: chr 12
allele count: 1
allele frequency: 1.963710627601917e-5
allele num: 50924
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1558G>A
  hgvsp: ENSP00000382512.1:p.Ala520Thr
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1558G>A
  hgvsp: ENSP00000382547.1:p.Ala520Thr
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1558G>A
  hgvsp: ENSP00000382549.1:p.Ala520Thr
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1558G>A
  hgvsp: ENSP00000329877.7:p.Ala520Thr
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1558G>A
  hgvsp: ENSP00000266376.6:p.Ala520Thr
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1558G>A
  hgvsp: ENSP00000385724.3:p.Ala520Thr
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1558G>A
  hgvsp: ENSP00000382526.1:p.Ala520Thr
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1558G>A
  hgvsp: ENSP00000382504.1:p.Ala520Thr
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1558G>A
  hgvsp: ENSP00000382563.1:p.Ala520Thr
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1558G>A
  hgvsp: ENSP00000382500.1:p.Ala520Thr
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1558G>A
  hgvsp: ENSP00000382552.1:p.Ala520Thr
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1558G>A
  hgvsp: ENSP00000382542.1:p.Ala520Thr
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1558G>A
  hgvsp: ENSP00000382537.1:p.Ala520Thr
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151067
  ensembl transcript: ENST00000491104
  gene symbol: CACNA1C
  hgvsc: ENST00000491104.1:n.558G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1558G>A
  hgvsp: ENSP00000382510.1:p.Ala520Thr
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382530
  ensembl transcript: ENST00000399621
  gene symbol: CACNA1C
  hgvsc: ENST00000399621.1:c.1558G>A
  hgvsp: ENSP00000382530.1:p.Ala520Thr
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1558G>A
  hgvsp: ENSP00000341092.3:p.Ala520Thr
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.1633G>A
  hgvsp: ENSP00000336982.5:p.Ala545Thr
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1558G>A
  hgvsp: ENSP00000437936.1:p.Ala520Thr
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala520Thr
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

12-2675657-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2675657
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2675657
    reference: chr 12
allele count: 1
allele frequency: 1.920417882931326e-5
allele num: 52072
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1578C>T
  hgvsp: ENST00000347598.4:c.1578C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1578C>T
  hgvsp: ENST00000406454.3:c.1578C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1578C>T
  hgvsp: ENST00000399634.1:c.1578C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1578C>T
  hgvsp: ENST00000399617.1:c.1578C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1578C>T
  hgvsp: ENST00000399629.1:c.1578C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382506
  ensembl transcript: ENST00000399597
  gene symbol: CACNA1C
  hgvsc: ENST00000399597.1:c.1578C>T
  hgvsp: ENST00000399597.1:c.1578C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1578C>T
  hgvsp: ENST00000402845.3:c.1578C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1578C>T
  hgvsp: ENST00000399603.1:c.1578C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1578C>T
  hgvsp: ENST00000399641.1:c.1578C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382530
  ensembl transcript: ENST00000399621
  gene symbol: CACNA1C
  hgvsc: ENST00000399621.1:c.1578C>T
  hgvsp: ENST00000399621.1:c.1578C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.1653C>T
  hgvsp: ENST00000335762.5:c.1653C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1578C>T
  hgvsp: ENST00000399601.1:c.1578C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1578C>T
  hgvsp: ENST00000399644.1:c.1578C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1578C>T
  hgvsp: ENST00000327702.7:c.1578C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1578C>T
  hgvsp: ENST00000399595.1:c.1578C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1578C>T
  hgvsp: ENST00000399606.1:c.1578C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1578C>T
  hgvsp: ENST00000399655.1:c.1578C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1578C>T
  hgvsp: ENST00000480911.1:c.1578C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1578C>T
  hgvsp: ENST00000399649.1:c.1578C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Phe526Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

12-2675661-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2675661
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2675661
    reference: chr 12
allele count: 1
allele frequency: 1.952819871895016e-5
allele num: 51208
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1582T>C
  hgvsp: ENSP00000382542.1:p.Trp528Arg
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1582T>C
  hgvsp: ENSP00000382549.1:p.Trp528Arg
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151067
  ensembl transcript: ENST00000491104
  gene symbol: CACNA1C
  hgvsc: ENST00000491104.1:n.582T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1582T>C
  hgvsp: ENSP00000382515.1:p.Trp528Arg
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1582T>C
  hgvsp: ENSP00000385896.3:p.Trp528Arg
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1582T>C
  hgvsp: ENSP00000382563.1:p.Trp528Arg
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1582T>C
  hgvsp: ENSP00000385724.3:p.Trp528Arg
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1582T>C
  hgvsp: ENSP00000382552.1:p.Trp528Arg
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1582T>C
  hgvsp: ENSP00000329877.7:p.Trp528Arg
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382506
  ensembl transcript: ENST00000399597
  gene symbol: CACNA1C
  hgvsc: ENST00000399597.1:c.1582T>C
  hgvsp: ENSP00000382506.1:p.Trp528Arg
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1582T>C
  hgvsp: ENSP00000382504.1:p.Trp528Arg
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1582T>C
  hgvsp: ENSP00000382526.1:p.Trp528Arg
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1582T>C
  hgvsp: ENSP00000382512.1:p.Trp528Arg
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1582T>C
  hgvsp: ENSP00000382557.1:p.Trp528Arg
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1582T>C
  hgvsp: ENSP00000437936.1:p.Trp528Arg
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1582T>C
  hgvsp: ENSP00000382510.1:p.Trp528Arg
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1582T>C
  hgvsp: ENSP00000341092.3:p.Trp528Arg
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1582T>C
  hgvsp: ENSP00000382546.1:p.Trp528Arg
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1582T>C
  hgvsp: ENSP00000266376.6:p.Trp528Arg
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Trp528Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD

12-2675668-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2675668
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2675668
    reference: chr 12
allele count: 971
allele frequency: 2.443381982888777e-2
allele num: 39740
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1589T>G
  hgvsp: ENSP00000382510.1:p.Val530Gly
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1589T>G
  hgvsp: ENSP00000329877.7:p.Val530Gly
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1589T>G
  hgvsp: ENSP00000382549.1:p.Val530Gly
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1589T>G
  hgvsp: ENSP00000382547.1:p.Val530Gly
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1589T>G
  hgvsp: ENSP00000382546.1:p.Val530Gly
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1589T>G
  hgvsp: ENSP00000385896.3:p.Val530Gly
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1589T>G
  hgvsp: ENSP00000382552.1:p.Val530Gly
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1589T>G
  hgvsp: ENSP00000382526.1:p.Val530Gly
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1589T>G
  hgvsp: ENSP00000341092.3:p.Val530Gly
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1589T>G
  hgvsp: ENSP00000382500.1:p.Val530Gly
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1589T>G
  hgvsp: ENSP00000382504.1:p.Val530Gly
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1589T>G
  hgvsp: ENSP00000382542.1:p.Val530Gly
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1589T>G
  hgvsp: ENSP00000382557.1:p.Val530Gly
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1589T>G
  hgvsp: ENSP00000382515.1:p.Val530Gly
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1589T>G
  hgvsp: ENSP00000382512.1:p.Val530Gly
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1589T>G
  hgvsp: ENSP00000266376.6:p.Val530Gly
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.1664T>G
  hgvsp: ENSP00000336982.5:p.Val555Gly
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382530
  ensembl transcript: ENST00000399621
  gene symbol: CACNA1C
  hgvsc: ENST00000399621.1:c.1589T>G
  hgvsp: ENSP00000382530.1:p.Val530Gly
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1589T>G
  hgvsp: ENSP00000385724.3:p.Val530Gly
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val530Gly
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

12-2675670-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2675670
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2675670
    reference: chr 12
allele count: 356
allele frequency: 7.026408242213713e-3
allele num: 50666
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1591A>G
  hgvsp: ENSP00000382512.1:p.Ile531Val
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151067
  ensembl transcript: ENST00000491104
  gene symbol: CACNA1C
  hgvsc: ENST00000491104.1:n.591A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382506
  ensembl transcript: ENST00000399597
  gene symbol: CACNA1C
  hgvsc: ENST00000399597.1:c.1591A>G
  hgvsp: ENSP00000382506.1:p.Ile531Val
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1591A>G
  hgvsp: ENSP00000382515.1:p.Ile531Val
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1591A>G
  hgvsp: ENSP00000382500.1:p.Ile531Val
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382530
  ensembl transcript: ENST00000399621
  gene symbol: CACNA1C
  hgvsc: ENST00000399621.1:c.1591A>G
  hgvsp: ENSP00000382530.1:p.Ile531Val
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1591A>G
  hgvsp: ENSP00000382547.1:p.Ile531Val
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1591A>G
  hgvsp: ENSP00000382549.1:p.Ile531Val
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1591A>G
  hgvsp: ENSP00000329877.7:p.Ile531Val
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1591A>G
  hgvsp: ENSP00000382526.1:p.Ile531Val
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.1666A>G
  hgvsp: ENSP00000336982.5:p.Ile556Val
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1591A>G
  hgvsp: ENSP00000382542.1:p.Ile531Val
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1591A>G
  hgvsp: ENSP00000385724.3:p.Ile531Val
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1591A>G
  hgvsp: ENSP00000382557.1:p.Ile531Val
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1591A>G
  hgvsp: ENSP00000382546.1:p.Ile531Val
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1591A>G
  hgvsp: ENSP00000382504.1:p.Ile531Val
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1591A>G
  hgvsp: ENSP00000382510.1:p.Ile531Val
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1591A>G
  hgvsp: ENSP00000385896.3:p.Ile531Val
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1591A>G
  hgvsp: ENSP00000382552.1:p.Ile531Val
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile531Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

12-2675675-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2675675
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2675675
    reference: chr 12
allele count: 11
allele frequency: 2.199384172431719e-4
allele num: 50014
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1596C>T
  hgvsp: ENST00000399603.1:c.1596C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382506
  ensembl transcript: ENST00000399597
  gene symbol: CACNA1C
  hgvsc: ENST00000399597.1:c.1596C>T
  hgvsp: ENST00000399597.1:c.1596C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1596C>T
  hgvsp: ENST00000399617.1:c.1596C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1596C>T
  hgvsp: ENST00000399644.1:c.1596C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1596C>T
  hgvsp: ENST00000399638.1:c.1596C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1596C>T
  hgvsp: ENST00000399629.1:c.1596C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1596C>T
  hgvsp: ENST00000406454.3:c.1596C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1596C>T
  hgvsp: ENST00000402845.3:c.1596C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382530
  ensembl transcript: ENST00000399621
  gene symbol: CACNA1C
  hgvsc: ENST00000399621.1:c.1596C>T
  hgvsp: ENST00000399621.1:c.1596C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1596C>T
  hgvsp: ENST00000399655.1:c.1596C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1596C>T
  hgvsp: ENST00000399634.1:c.1596C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1596C>T
  hgvsp: ENST00000399601.1:c.1596C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1596C>T
  hgvsp: ENST00000399595.1:c.1596C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1596C>T
  hgvsp: ENST00000327702.7:c.1596C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1596C>T
  hgvsp: ENST00000399641.1:c.1596C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.1671C>T
  hgvsp: ENST00000335762.5:c.1671C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1596C>T
  hgvsp: ENST00000399649.1:c.1596C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1596C>T
  hgvsp: ENST00000399637.1:c.1596C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1596C>T
  hgvsp: ENST00000399606.1:c.1596C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Phe532Phe
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

12-2675678-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2675678
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2675678
    reference: chr 12
allele count: 1
allele frequency: 1.947192148921256e-5
allele num: 51356
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1599G>A
  hgvsp: ENST00000347598.4:c.1599G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1599G>A
  hgvsp: ENST00000399629.1:c.1599G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.1674G>A
  hgvsp: ENST00000335762.5:c.1674G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1599G>A
  hgvsp: ENST00000399617.1:c.1599G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1599G>A
  hgvsp: ENST00000399603.1:c.1599G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1599G>A
  hgvsp: ENST00000402845.3:c.1599G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1599G>A
  hgvsp: ENST00000399638.1:c.1599G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1599G>A
  hgvsp: ENST00000399591.1:c.1599G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1599G>A
  hgvsp: ENST00000399634.1:c.1599G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1599G>A
  hgvsp: ENST00000399644.1:c.1599G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1599G>A
  hgvsp: ENST00000399595.1:c.1599G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1599G>A
  hgvsp: ENST00000406454.3:c.1599G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1599G>A
  hgvsp: ENST00000327702.7:c.1599G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382506
  ensembl transcript: ENST00000399597
  gene symbol: CACNA1C
  hgvsc: ENST00000399597.1:c.1599G>A
  hgvsp: ENST00000399597.1:c.1599G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1599G>A
  hgvsp: ENST00000344100.3:c.1599G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1599G>A
  hgvsp: ENST00000399655.1:c.1599G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1599G>A
  hgvsp: ENST00000399606.1:c.1599G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1599G>A
  hgvsp: ENST00000399637.1:c.1599G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382530
  ensembl transcript: ENST00000399621
  gene symbol: CACNA1C
  hgvsc: ENST00000399621.1:c.1599G>A
  hgvsp: ENST00000399621.1:c.1599G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu533Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP

12-2675693-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2675693
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2675693
    reference: chr 12
allele count: 5
allele frequency: 9.694055605102951e-5
allele num: 51578
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1614G>A
  hgvsp: ENST00000399595.1:c.1614G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1614G>A
  hgvsp: ENST00000399634.1:c.1614G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1614G>A
  hgvsp: ENST00000347598.4:c.1614G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382530
  ensembl transcript: ENST00000399621
  gene symbol: CACNA1C
  hgvsc: ENST00000399621.1:c.1614G>A
  hgvsp: ENST00000399621.1:c.1614G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382506
  ensembl transcript: ENST00000399597
  gene symbol: CACNA1C
  hgvsc: ENST00000399597.1:c.1614G>A
  hgvsp: ENST00000399597.1:c.1614G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1614G>A
  hgvsp: ENST00000402845.3:c.1614G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1614G>A
  hgvsp: ENST00000344100.3:c.1614G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1614G>A
  hgvsp: ENST00000406454.3:c.1614G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1614G>A
  hgvsp: ENST00000480911.1:c.1614G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1614G>A
  hgvsp: ENST00000399644.1:c.1614G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1614G>A
  hgvsp: ENST00000399641.1:c.1614G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1614G>A
  hgvsp: ENST00000399655.1:c.1614G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1614G>A
  hgvsp: ENST00000399617.1:c.1614G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1614G>A
  hgvsp: ENST00000399629.1:c.1614G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1614G>A
  hgvsp: ENST00000399601.1:c.1614G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1614G>A
  hgvsp: ENST00000399637.1:c.1614G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1614G>A
  hgvsp: ENST00000399638.1:c.1614G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1614G>A
  hgvsp: ENST00000399606.1:c.1614G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1614G>A
  hgvsp: ENST00000327702.7:c.1614G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr538Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD

12-2675719-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2675719
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2675719
    reference: chr 12
allele count: 1
allele frequency: 1.876031817499625e-5
allele num: 53304
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1640A>G
  hgvsp: ENSP00000382537.1:p.Asn547Ser
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382506
  ensembl transcript: ENST00000399597
  gene symbol: CACNA1C
  hgvsc: ENST00000399597.1:c.1640A>G
  hgvsp: ENSP00000382506.1:p.Asn547Ser
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1640A>G
  hgvsp: ENSP00000382552.1:p.Asn547Ser
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1640A>G
  hgvsp: ENSP00000385724.3:p.Asn547Ser
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1640A>G
  hgvsp: ENSP00000382547.1:p.Asn547Ser
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1640A>G
  hgvsp: ENSP00000382526.1:p.Asn547Ser
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1640A>G
  hgvsp: ENSP00000266376.6:p.Asn547Ser
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1640A>G
  hgvsp: ENSP00000382515.1:p.Asn547Ser
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1640A>G
  hgvsp: ENSP00000382512.1:p.Asn547Ser
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1640A>G
  hgvsp: ENSP00000329877.7:p.Asn547Ser
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1640A>G
  hgvsp: ENSP00000385896.3:p.Asn547Ser
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.1715A>G
  hgvsp: ENSP00000336982.5:p.Asn572Ser
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1640A>G
  hgvsp: ENSP00000382504.1:p.Asn547Ser
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1640A>G
  hgvsp: ENSP00000382549.1:p.Asn547Ser
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1640A>G
  hgvsp: ENSP00000382546.1:p.Asn547Ser
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1640A>G
  hgvsp: ENSP00000382500.1:p.Asn547Ser
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1640A>G
  hgvsp: ENSP00000437936.1:p.Asn547Ser
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1640A>G
  hgvsp: ENSP00000382563.1:p.Asn547Ser
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1640A>G
  hgvsp: ENSP00000382542.1:p.Asn547Ser
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn547Ser
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum

12-2675728-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2675728
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2675728
    reference: chr 12
allele count: 2
allele frequency: 3.790463194602381e-5
allele num: 52764
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1649A>G
  hgvsp: ENSP00000382510.1:p.Asn550Ser
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1649A>G
  hgvsp: ENSP00000382542.1:p.Asn550Ser
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1649A>G
  hgvsp: ENSP00000382515.1:p.Asn550Ser
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1649A>G
  hgvsp: ENSP00000385724.3:p.Asn550Ser
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1649A>G
  hgvsp: ENSP00000385896.3:p.Asn550Ser
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1649A>G
  hgvsp: ENSP00000382500.1:p.Asn550Ser
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151067
  ensembl transcript: ENST00000491104
  gene symbol: CACNA1C
  hgvsc: ENST00000491104.1:n.649A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1649A>G
  hgvsp: ENSP00000382547.1:p.Asn550Ser
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1649A>G
  hgvsp: ENSP00000382552.1:p.Asn550Ser
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1649A>G
  hgvsp: ENSP00000382504.1:p.Asn550Ser
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1649A>G
  hgvsp: ENSP00000382546.1:p.Asn550Ser
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1649A>G
  hgvsp: ENSP00000382512.1:p.Asn550Ser
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1649A>G
  hgvsp: ENSP00000382537.1:p.Asn550Ser
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1649A>G
  hgvsp: ENSP00000437936.1:p.Asn550Ser
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1649A>G
  hgvsp: ENSP00000341092.3:p.Asn550Ser
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1649A>G
  hgvsp: ENSP00000382526.1:p.Asn550Ser
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382506
  ensembl transcript: ENST00000399597
  gene symbol: CACNA1C
  hgvsc: ENST00000399597.1:c.1649A>G
  hgvsp: ENSP00000382506.1:p.Asn550Ser
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1649A>G
  hgvsp: ENSP00000329877.7:p.Asn550Ser
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.1724A>G
  hgvsp: ENSP00000336982.5:p.Asn575Ser
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn550Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: A
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-2675729-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2675729
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2675729
    reference: chr 12
allele count: 1
allele frequency: 1.895159761967934e-5
allele num: 52766
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1650C>A
  hgvsp: ENSP00000382549.1:p.Asn550Lys
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151067
  ensembl transcript: ENST00000491104
  gene symbol: CACNA1C
  hgvsc: ENST00000491104.1:n.650C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1650C>A
  hgvsp: ENSP00000382515.1:p.Asn550Lys
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1650C>A
  hgvsp: ENSP00000382547.1:p.Asn550Lys
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1650C>A
  hgvsp: ENSP00000266376.6:p.Asn550Lys
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1650C>A
  hgvsp: ENSP00000382542.1:p.Asn550Lys
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1650C>A
  hgvsp: ENSP00000329877.7:p.Asn550Lys
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1650C>A
  hgvsp: ENSP00000382504.1:p.Asn550Lys
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1650C>A
  hgvsp: ENSP00000382552.1:p.Asn550Lys
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1650C>A
  hgvsp: ENSP00000385724.3:p.Asn550Lys
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382530
  ensembl transcript: ENST00000399621
  gene symbol: CACNA1C
  hgvsc: ENST00000399621.1:c.1650C>A
  hgvsp: ENSP00000382530.1:p.Asn550Lys
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1650C>A
  hgvsp: ENSP00000382526.1:p.Asn550Lys
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1650C>A
  hgvsp: ENSP00000382546.1:p.Asn550Lys
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1650C>A
  hgvsp: ENSP00000382500.1:p.Asn550Lys
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1650C>A
  hgvsp: ENSP00000385896.3:p.Asn550Lys
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382506
  ensembl transcript: ENST00000399597
  gene symbol: CACNA1C
  hgvsc: ENST00000399597.1:c.1650C>A
  hgvsp: ENSP00000382506.1:p.Asn550Lys
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1650C>A
  hgvsp: ENSP00000382510.1:p.Asn550Lys
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1650C>A
  hgvsp: ENSP00000382512.1:p.Asn550Lys
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000437936
  ensembl transcript: ENST00000480911
  gene symbol: CACNA1C
  hgvsc: ENST00000480911.1:c.1650C>A
  hgvsp: ENSP00000437936.1:p.Asn550Lys
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn550Lys
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

12-2675754-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2675754
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2675754
    reference: chr 12
allele count: 5
allele frequency: 1.075638929524137e-4
allele num: 46484
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1669+6C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1669+6C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1669+6C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1669+6C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1669+6C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382530
  ensembl transcript: ENST00000399621
  gene symbol: CACNA1C
  hgvsc: ENST00000399621.1:c.1669+6C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1669+6C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.1669+6C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1669+6C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382506
  ensembl transcript: ENST00000399597
  gene symbol: CACNA1C
  hgvsc: ENST00000399597.1:c.1669+6C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.1669+6C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1669+6C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1669+6C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1669+6C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1669+6C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.1669+6C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1669+6C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1669+6C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1669+6C>T
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.1669+6C>T
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ

12-2675755-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2675755
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2675755
    reference: chr 12
allele count: 2
allele frequency: 4.336889582791222e-5
allele num: 46116
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.1669+7G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.1744+7G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.1669+7G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382506
  ensembl transcript: ENST00000399597
  gene symbol: CACNA1C
  hgvsc: ENST00000399597.1:c.1669+7G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.1669+7G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.1669+7G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.1669+7G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.1669+7G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.1669+7G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.1669+7G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.1669+7G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.1669+7G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.1669+7G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.1669+7G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.1669+7G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.1669+7G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.1669+7G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382530
  ensembl transcript: ENST00000399621
  gene symbol: CACNA1C
  hgvsc: ENST00000399621.1:c.1669+7G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.1669+7G>A
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
hgvs: c.1669+7G>A
num of homozygotes: 0
reference allele: G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl transcript: ENST00000491104
gene symbol: CACNA1C
hgvsc: ENST00000491104.1:n.481+17A>C
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382549
ensembl transcript: ENST00000399641
gene symbol: CACNA1C
hgvsc: ENST00000399641.1:c.1481+640A>C
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382512
ensembl transcript: ENST00000399603
gene symbol: CACNA1C
hgvsc: ENST00000399603.1:c.1481+640A>C
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 1201
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19520
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 170
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3077
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 487
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 318
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9308
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1741
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12883
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7657
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 264
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 58
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 266
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5706
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5600
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1502
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1912
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2563
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16296
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8199
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1946
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6155
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1385
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2069
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1198
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.97675338024828e-5
allele num: 50588
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5568
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8874
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13048
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e0

DP
type: SiteQuality
SIO_000300: 9.06791e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.338e1

MQRankSum
type: SiteQuality
SIO_000300: -2.72e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.897e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000336982
ensembl transcript: ENST00000335762
gene symbol: CACNA1C
hgvsc: ENST00000335762.5:c.1556+649T>C
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000266376
ensembl transcript: ENST00000347598
gene symbol: CACNA1C
hgvsc: ENST00000347598.4:c.1481+649T>C
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382552
ensembl transcript: ENST00000399644
gene symbol: CACNA1C
hgvsc: ENST00000399644.1:c.1481+649T>C
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 1210
bin: 2.5e0
variant carriers: 1078

GenotypeDepth
all individuals: 68
bin: 7.25e1
variant carriers: 67

GenotypeDepth
all individuals: 1280
bin: 3.75e1
variant carriers: 1279

GenotypeDepth
all individuals: 19169
bin: 1.25e1
variant carriers: 19026

GenotypeDepth
all individuals: 143
bin: 6.25e1
variant carriers: 143

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 20

GenotypeDepth
all individuals: 12
bin: 9.25e1
variant carriers: 12

GenotypeDepth
all individuals: 906
bin: 4.25e1
variant carriers: 906

GenotypeDepth
all individuals: 79
bin: 6.75e1
variant carriers: 78

GenotypeDepth
all individuals: 2409
bin: 2.75e1
variant carriers: 2397

GenotypeDepth
all individuals: 363
bin: 5.25e1
variant carriers: 363

GenotypeDepth
all individuals: 10847
bin: 7.5e0
variant carriers: 10582

GenotypeDepth
all individuals: 12501
bin: 1.75e1
variant carriers: 12486

GenotypeDepth
all individuals: 31
bin: 7.75e1
variant carriers: 31

GenotypeDepth
all individuals: 5217
bin: 2.25e1
variant carriers: 5198

GenotypeDepth
all individuals: 1645
bin: 3.25e1
variant carriers: 1639

GenotypeDepth
all individuals: 243
bin: 5.75e1
variant carriers: 243

GenotypeDepth
all individuals: 32
bin: 8.25e1
variant carriers: 32

GenotypeDepth
all individuals: 23
bin: 9.75e1
variant carriers: 23

GenotypeDepth
all individuals: 587
bin: 4.75e1
variant carriers: 586

GenotypeQuality
all individuals: 387
bin: 2.5e0
variant carriers: 70

GenotypeQuality
all individuals: 759
bin: 9.25e1
variant carriers: 759

GenotypeQuality
all individuals: 2386
bin: 1.75e1
variant carriers: 2378

GenotypeQuality
all individuals: 5601
bin: 4.75e1
variant carriers: 5601

GenotypeQuality
all individuals: 915
bin: 8.25e1
variant carriers: 915

GenotypeQuality
all individuals: 4589
bin: 2.25e1
variant carriers: 4477

GenotypeQuality
all individuals: 3123
bin: 2.75e1
variant carriers: 3110

GenotypeQuality
all individuals: 685
bin: 1.25e1
variant carriers: 673

GenotypeQuality
all individuals: 4110
bin: 5.25e1
variant carriers: 4108

GenotypeQuality
all individuals: 636
bin: 7.25e1
variant carriers: 633

GenotypeQuality
all individuals: 6950
bin: 3.25e1
variant carriers: 6931

GenotypeQuality
all individuals: 468
bin: 8.75e1
variant carriers: 468

GenotypeQuality
all individuals: 644
bin: 7.5e0
variant carriers: 574

GenotypeQuality
all individuals: 7078
bin: 3.75e1
variant carriers: 7074

GenotypeQuality
all individuals: 1712
bin: 5.75e1
variant carriers: 1711

GenotypeQuality
all individuals: 3327
bin: 4.25e1
variant carriers: 3326

GenotypeQuality
all individuals: 2479
bin: 6.25e1
variant carriers: 2453

GenotypeQuality
all individuals: 8164
bin: 9.75e1
variant carriers: 8162

GenotypeQuality
all individuals: 1048
bin: 7.75e1
variant carriers: 1047

GenotypeQuality
all individuals: 1724
bin: 6.75e1
variant carriers: 1719

Latino
type: Population
allele count: 8221
allele frequency: 9.664942393604514e-1
allele num: 8506
num of homozygotes: 3972

South Asian
type: Population
allele count: 12171
allele frequency: 9.345055282555282e-1
allele num: 13024
num of homozygotes: 5694

European (Finnish)
type: Population
allele count: 5393
allele frequency: 9.891782831988262e-1
allele num: 5452
num of homozygotes: 2668

African
type: Population
allele count: 5028
allele frequency: 8.180930686625447e-1
allele num: 6146
num of homozygotes: 2027

European (Non-Finnish)
type: Population
allele count: 47313
allele frequency: 9.677439149110247e-1
allele num: 48890
num of homozygotes: 22882

Other
type: Population
allele count: 668
allele frequency: 9.570200573065902e-1
allele num: 698
num of homozygotes: 319

East Asian
type: Population
allele count: 5782
allele frequency: 9.441541476159373e-1
allele num: 6124
num of homozygotes: 2725

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.984e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.320000000000001e-2

DP
type: SiteQuality
SIO_000300: 9.3038e5

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.13e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000341092
ensembl transcript: ENST00000344100
gene symbol: CACNA1C
hgvsc: ENST00000344100.3:c.1481+658delC
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382549
ensembl transcript: ENST00000399641
gene symbol: CACNA1C
hgvsc: ENST00000399641.1:c.1481+658delC
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382530
ensembl transcript: ENST00000399621
gene symbol: CACNA1C
hgvsc: ENST00000399621.1:c.1481+658delC
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 8371
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 134
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 46
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1119
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19089
bin: 7.5e0
variant carriers: 3

GenotypeDepth
all individuals: 436
bin: 3.75e1
variant carriers: 2

GenotypeDepth
all individuals: 2781
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20304
bin: 1.25e1
variant carriers: 7

GenotypeDepth
all individuals: 215
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1566
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2970
bin: 1.75e1
variant carriers: 3

GenotypeDepth
all individuals: 0
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26345
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4278
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3481
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3274
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 165
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1089
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2720
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1166
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9416
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 119
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2484
bin: 1.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

African
type: Population
allele count: 15
allele frequency: 3.82457929627741e-3
allele num: 3922
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3580
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.199736031676199e-4
allele num: 4546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3826
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30838
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

QD
type: SiteQuality
SIO_000300: 1.569e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.336e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.09e-2

DP
type: SiteQuality
SIO_000300: 6.43625e5

BaseQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382506
ensembl transcript: ENST00000399597
gene symbol: CACNA1C
hgvsc: ENST00000399597.1:c.1481+660G>A
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000341092
ensembl transcript: ENST00000344100
gene symbol: CACNA1C
hgvsc: ENST00000344100.3:c.1481+660G>A
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382552
ensembl transcript: ENST00000399644
gene symbol: CACNA1C
hgvsc: ENST00000399644.1:c.1481+660G>A
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 2232
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 420
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20046
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 133
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18145
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10294
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 867
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3228
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 6
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 46
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3456
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2369
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 287
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4209
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1250
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11608
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3984
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1300
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22691
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2962
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3544
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9826
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3428
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27026
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.3178500331785e-4
allele num: 3014
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3808
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.12e-1

FS
type: SiteQuality
SIO_000300: 6.850000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.048e1

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.383e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.256e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.96e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.04433e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382547
ensembl transcript: ENST00000399638
gene symbol: CACNA1C
hgvsc: ENST00000399638.1:c.1481+660G>C
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382542
ensembl transcript: ENST00000399634
gene symbol: CACNA1C
hgvsc: ENST00000399634.1:c.1481+660G>C
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382510
ensembl transcript: ENST00000399601
gene symbol: CACNA1C
hgvsc: ENST00000399601.1:c.1481+660G>C
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 867
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10294
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18145
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 88
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20046
bin: 7.5e0
variant carriers: 2

GenotypeDepth
all individuals: 3228
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 133
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2232
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 420
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4209
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11608
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1300
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2369
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3984
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2962
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3456
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22691
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1250
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 105
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3544
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9826
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3808
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3014
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3428
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.700140605343003e-5
allele num: 27026
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.383e0

QD
type: SiteQuality
SIO_000300: 1.048e1

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.256e0

FS
type: SiteQuality
SIO_000300: 6.850000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.96e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

DP
type: SiteQuality
SIO_000300: 6.04433e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382546
ensembl transcript: ENST00000399637
gene symbol: CACNA1C
hgvsc: ENST00000399637.1:c.1481+660G>T
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382510
ensembl transcript: ENST00000399601
gene symbol: CACNA1C
hgvsc: ENST00000399601.1:c.1481+660G>T
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382552
ensembl transcript: ENST00000399644
gene symbol: CACNA1C
hgvsc: ENST00000399644.1:c.1481+660G>T
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 6
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 420
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10294
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18145
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3228
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2232
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 867
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20046
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 88
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 133
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1250
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11608
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4209
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3456
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22691
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2962
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3984
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1300
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2369
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 972
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3014
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9826
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3428
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3544
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3808
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 7.400281210686006e-5
allele num: 27026
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.383e0

FS
type: SiteQuality
SIO_000300: 6.850000000000001e-1

DP
type: SiteQuality
SIO_000300: 6.04433e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

QD
type: SiteQuality
SIO_000300: 1.048e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.96e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.256e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382547
ensembl transcript: ENST00000399638
gene symbol: CACNA1C
hgvsc: ENST00000399638.1:c.1481+662G>A
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382552
ensembl transcript: ENST00000399644
gene symbol: CACNA1C
hgvsc: ENST00000399644.1:c.1481+662G>A
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382537
ensembl transcript: ENST00000399629
gene symbol: CACNA1C
hgvsc: ENST00000399629.1:c.1481+662G>A
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 6
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17677
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 804
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 133
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3155
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 413
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 206
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20353
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1302
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10747
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2131
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 979
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3536
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4278
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12006
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2743
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2316
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22719
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4264
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1335
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.315649867374005e-4
allele num: 3016
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27026
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9820
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3456
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3758
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.2e-1

MQ
type: SiteQuality
SIO_000300: 5.991e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.604e0

DP
type: SiteQuality
SIO_000300: 5.93716e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

QD
type: SiteQuality
SIO_000300: 1.887e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382506
ensembl transcript: ENST00000399597
gene symbol: CACNA1C
hgvsc: ENST00000399597.1:c.1481+666C>T
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382530
ensembl transcript: ENST00000399621
gene symbol: CACNA1C
hgvsc: ENST00000399621.1:c.1481+666C>T
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000341092
ensembl transcript: ENST00000344100
gene symbol: CACNA1C
hgvsc: ENST00000344100.3:c.1481+666C>T
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 767
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1559
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 281
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3432
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1019
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 12755
bin: 1.25e1
variant carriers: 9

GenotypeDepth
all individuals: 46
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12181
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 2
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 133
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24385
bin: 7.5e0
variant carriers: 9

GenotypeQuality
all individuals: 103
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1825
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 525
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 2956
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13272
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6899
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6606
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1518
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 329
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15954
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2989
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1508
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 163
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 617
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 6.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 334
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 1.302083333333333e-3
allele num: 2304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.249343832020998e-5
allele num: 19050
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8758
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1978
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 3.215434083601286e-3
allele num: 2488
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2812
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

FS
type: SiteQuality
SIO_000300: 2.646e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

QD
type: SiteQuality
SIO_000300: 1.425e1

VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.12e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.32613e5

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382542
ensembl transcript: ENST00000399634
gene symbol: CACNA1C
hgvsc: ENST00000399634.1:c.1481+667G>A
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382506
ensembl transcript: ENST00000399597
gene symbol: CACNA1C
hgvsc: ENST00000399597.1:c.1481+667G>A
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382552
ensembl transcript: ENST00000399644
gene symbol: CACNA1C
hgvsc: ENST00000399644.1:c.1481+667G>A
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 271
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12590
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12322
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 3339
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 133
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 742
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1559
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24570
bin: 7.5e0
variant carriers: 3

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1039
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1703
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 161
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6567
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2981
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6501
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1510
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13408
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2968
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 284
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16435
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1626
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2478
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 338
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8816
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1968
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19110
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2808
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2302
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.30027e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.333e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000336982
ensembl transcript: ENST00000335762
gene symbol: CACNA1C
hgvsc: ENST00000335762.5:c.1556+674G>A
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382530
ensembl transcript: ENST00000399621
gene symbol: CACNA1C
hgvsc: ENST00000399621.1:c.1481+674G>A
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382506
ensembl transcript: ENST00000399597
gene symbol: CACNA1C
hgvsc: ENST00000399597.1:c.1481+674G>A
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 10477
bin: 1.25e1
variant carriers: 4

GenotypeDepth
all individuals: 19
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3083
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1512
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26496
bin: 7.5e0
variant carriers: 5

GenotypeDepth
all individuals: 12889
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1233
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 0
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 551
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 133
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1406
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14985
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 7099
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13672
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1680
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3012
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7360
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 521
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 78
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2889
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1529
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2226
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 2.288329519450801e-3
allele num: 2622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.899705014749263e-5
allele num: 16950
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 312
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1930
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1726
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

FS
type: SiteQuality
SIO_000300: 2.435e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.14e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

DP
type: SiteQuality
SIO_000300: 5.10169e5

QD
type: SiteQuality
SIO_000300: 1.307e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000336982
ensembl transcript: ENST00000335762
gene symbol: CACNA1C
hgvsc: ENST00000335762.5:c.1556+676C>T
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382515
ensembl transcript: ENST00000399606
gene symbol: CACNA1C
hgvsc: ENST00000399606.1:c.1481+676C>T
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382506
ensembl transcript: ENST00000399597
gene symbol: CACNA1C
hgvsc: ENST00000399597.1:c.1481+676C>T
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 9864
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1093
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 190
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12998
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3056
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1688
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 516
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27029
bin: 7.5e0
variant carriers: 4

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

GenotypeDepth
all individuals: 46
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8705
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1106
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 61
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2857
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 129
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2186
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 600
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13389
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13402
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 7227
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2988
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1535
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8278
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 3.289473684210526e-3
allele num: 304
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2092
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1594
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1786
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.249063202598052e-4
allele num: 16012
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2550
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.29e-1

DP
type: SiteQuality
SIO_000300: 5.05595e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

FS
type: SiteQuality
SIO_000300: 1.767e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 1.016e1

VQSLOD
type: SiteQuality
SIO_000300: 9.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.31e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl transcript: ENST00000491104
gene symbol: CACNA1C
hgvsc: ENST00000491104.1:n.481+54G>A
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000437936
ensembl transcript: ENST00000480911
gene symbol: CACNA1C
hgvsc: ENST00000480911.1:c.1481+677G>A
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382547
ensembl transcript: ENST00000399638
gene symbol: CACNA1C
hgvsc: ENST00000399638.1:c.1481+677G>A
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 0
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27092
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13053
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 6
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3017
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1712
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 246
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9830
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 504
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1076
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1538
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13478
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2175
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1192
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8417
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13682
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2842
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7172
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 60
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2997
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 770
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15978
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.197318007662835e-4
allele num: 8352
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1776
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2102
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2536
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

DP
type: SiteQuality
SIO_000300: 5.04765e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.289999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000336982
ensembl transcript: ENST00000335762
gene symbol: CACNA1C
hgvsc: ENST00000335762.5:c.1557-44C>T
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382512
ensembl transcript: ENST00000399603
gene symbol: CACNA1C
hgvsc: ENST00000399603.1:c.1482-44C>T
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382506
ensembl transcript: ENST00000399597
gene symbol: CACNA1C
hgvsc: ENST00000399597.1:c.1482-44C>T
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 638
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 466
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1318
bin: 6.25e1
variant carriers: 2

GenotypeDepth
all individuals: 264
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9704
bin: 2.75e1
variant carriers: 5

GenotypeDepth
all individuals: 51
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7378
bin: 4.25e1
variant carriers: 3

GenotypeDepth
all individuals: 55
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 11392
bin: 3.25e1
variant carriers: 3

GenotypeDepth
all individuals: 370
bin: 8.75e1
variant carriers: 2

GenotypeDepth
all individuals: 582
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2021
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 3176
bin: 5.25e1
variant carriers: 2

GenotypeDepth
all individuals: 4609
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 297
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9544
bin: 3.75e1
variant carriers: 2

GenotypeDepth
all individuals: 4946
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 977
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1919
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 732
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2705
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4072
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5079
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4711
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 184
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26686
bin: 9.75e1
variant carriers: 32

GenotypeQuality
all individuals: 7974
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 4595
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3058
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
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: 8618
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.596503375454388e-4
allele num: 11554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.850456072971676e-4
allele num: 66656
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.85201358563804e-4
allele num: 16488
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.506292e6

MQ
type: SiteQuality
SIO_000300: 5.994e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

QD
type: SiteQuality
SIO_000300: 1.301e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.204e0

FS
type: SiteQuality
SIO_000300: 2.159e0

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.56e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-2

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382526
ensembl transcript: ENST00000399617
gene symbol: CACNA1C
hgvsc: ENST00000399617.1:c.1482-43G>A
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000341092
ensembl transcript: ENST00000344100
gene symbol: CACNA1C
hgvsc: ENST00000344100.3:c.1482-43G>A
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000385724
ensembl transcript: ENST00000402845
gene symbol: CACNA1C
hgvsc: ENST00000402845.3:c.1482-43G>A
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 2022
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 11439
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 51
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 511
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1316
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3174
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 368
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4944
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9548
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4687
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 249
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 732
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 297
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7386
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1917
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 977
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 465
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 581
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9720
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 117
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4076
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3071
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2711
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26672
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 98
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4716
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8240
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4598
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5116
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.499625018749062e-5
allele num: 66670
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.042483660130719e-4
allele num: 9792
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: 8622
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e-1

FS
type: SiteQuality
SIO_000300: 4.058e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

DP
type: SiteQuality
SIO_000300: 2.507317e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e-1

QD
type: SiteQuality
SIO_000300: 1.418e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382530
ensembl transcript: ENST00000399621
gene symbol: CACNA1C
hgvsc: ENST00000399621.1:c.1482-39G>T
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000329877
ensembl transcript: ENST00000327702
gene symbol: CACNA1C
hgvsc: ENST00000327702.7:c.1482-39G>T
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000336982
ensembl transcript: ENST00000335762
gene symbol: CACNA1C
hgvsc: ENST00000335762.5:c.1557-39G>T
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 368
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9562
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 297
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 465
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 298
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 731
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9756
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 217
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1316
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11497
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 582
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 45
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4827
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2022
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1917
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7385
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3174
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4943
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 977
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 26669
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2724
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3100
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8529
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4623
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 83
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 60
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5130
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4083
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4715
bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66674
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

DP
type: SiteQuality
SIO_000300: 2.509554e6

VQSLOD
type: SiteQuality
SIO_000300: -3.113e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.28e-1

FS
type: SiteQuality
SIO_000300: 1.8263e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.070000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

QD
type: SiteQuality
SIO_000300: 8.19e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382506
ensembl transcript: ENST00000399597
gene symbol: CACNA1C
hgvsc: ENST00000399597.1:c.1482-27T>C
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382552
ensembl transcript: ENST00000399644
gene symbol: CACNA1C
hgvsc: ENST00000399644.1:c.1482-27T>C
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382546
ensembl transcript: ENST00000399637
gene symbol: CACNA1C
hgvsc: ENST00000399637.1:c.1482-27T>C
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 465
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 976
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3174
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9892
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 732
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 581
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 297
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9574
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7394
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4876
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11608
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4948
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2023
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 96
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1917
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 368
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1317
bin: 6.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 44
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4091
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8865
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5186
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2734
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4649
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4727
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26679
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3121
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
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: 8624
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.041649652919559e-4
allele num: 9796
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.94e-1

FS
type: SiteQuality
SIO_000300: 6.369e0

QD
type: SiteQuality
SIO_000300: 1.253e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.26e0

DP
type: SiteQuality
SIO_000300: 2.514161e6

MQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.85e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000437936
ensembl transcript: ENST00000480911
gene symbol: CACNA1C
hgvsc: ENST00000480911.1:c.1482-10dupT
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl transcript: ENST00000491104
gene symbol: CACNA1C
hgvsc: ENST00000491104.1:n.482-10dupT
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382552
ensembl transcript: ENST00000399644
gene symbol: CACNA1C
hgvsc: ENST00000399644.1:c.1482-10dupT
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 9943
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4853
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9582
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 368
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4947
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 69
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7393
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11660
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 581
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 465
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 732
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 297
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 976
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2022
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1316
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3176
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1917
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2737
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26679
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8911
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 3109
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5196
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4653
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4094
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4735
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.7e0

DP
type: SiteQuality
SIO_000300: 2.515656e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

MQRankSum
type: SiteQuality
SIO_000300: -1.558e0

QD
type: SiteQuality
SIO_000300: 1.239e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000151067
ensembl transcript: ENST00000491104
gene symbol: CACNA1C
hgvsc: ENST00000491104.1:n.485C>A
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382542
ensembl transcript: ENST00000399634
gene symbol: CACNA1C
hgvsc: ENST00000399634.1:c.1485C>A
hgvsp: ENSP00000382542.1:p.His495Gln
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382537
ensembl transcript: ENST00000399629
gene symbol: CACNA1C
hgvsc: ENST00000399629.1:c.1485C>A
hgvsp: ENSP00000382537.1:p.His495Gln
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382530
ensembl transcript: ENST00000399621
gene symbol: CACNA1C
hgvsc: ENST00000399621.1:c.1485C>A
hgvsp: ENSP00000382530.1:p.His495Gln
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382563
ensembl transcript: ENST00000399655
gene symbol: CACNA1C
hgvsc: ENST00000399655.1:c.1485C>A
hgvsp: ENSP00000382563.1:p.His495Gln
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 9958
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 732
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7393
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4946
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9586
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4879
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 976
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1917
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 11664
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3178
bin: 5.25e1
variant carriers: 2

GenotypeDepth
all individuals: 297
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1317
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2022
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 465
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 368
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 581
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9032
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26683
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 34
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5197
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4098
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3110
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4728
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4654
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2734
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
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: 8626
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.104124132298898e-4
allele num: 9796
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.401e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.496e0

QD
type: SiteQuality
SIO_000300: 1.117e1

MQ
type: SiteQuality
SIO_000300: 5.972e1

DP
type: SiteQuality
SIO_000300: 2.516411e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000151067
ensembl transcript: ENST00000491104
gene symbol: CACNA1C
hgvsc: ENST00000491104.1:n.486C>T
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382542
ensembl transcript: ENST00000399634
gene symbol: CACNA1C
hgvsc: ENST00000399634.1:c.1486C>T
hgvsp: ENSP00000382542.1:p.Arg496Trp
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000336982
ensembl transcript: ENST00000335762
gene symbol: CACNA1C
hgvsc: ENST00000335762.5:c.1561C>T
hgvsp: ENSP00000336982.5:p.Arg521Trp
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382506
ensembl transcript: ENST00000399597
gene symbol: CACNA1C
hgvsc: ENST00000399597.1:c.1486C>T
hgvsp: ENSP00000382506.1:p.Arg496Trp
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382563
ensembl transcript: ENST00000399655
gene symbol: CACNA1C
hgvsc: ENST00000399655.1:c.1486C>T
hgvsp: ENSP00000382563.1:p.Arg496Trp
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 582
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 11657
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4882
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2022
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 49
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 732
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 297
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1317
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9957
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3177
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 9588
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7395
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 464
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1917
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 976
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4949
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 368
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5197
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4653
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2735
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4097
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26681
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 4731
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9030
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.494678778067572e-5
allele num: 66714
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.135e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
SIO_000300: 2.516472e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.98e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.55e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382546
ensembl transcript: ENST00000399637
gene symbol: CACNA1C
hgvsc: ENST00000399637.1:c.1487G>A
hgvsp: ENSP00000382546.1:p.Arg496Gln
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382547
ensembl transcript: ENST00000399638
gene symbol: CACNA1C
hgvsc: ENST00000399638.1:c.1487G>A
hgvsp: ENSP00000382547.1:p.Arg496Gln
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382526
ensembl transcript: ENST00000399617
gene symbol: CACNA1C
hgvsc: ENST00000399617.1:c.1487G>A
hgvsp: ENSP00000382526.1:p.Arg496Gln
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382512
ensembl transcript: ENST00000399603
gene symbol: CACNA1C
hgvsc: ENST00000399603.1:c.1487G>A
hgvsp: ENSP00000382512.1:p.Arg496Gln
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382500
ensembl transcript: ENST00000399591
gene symbol: CACNA1C
hgvsc: ENST00000399591.1:c.1487G>A
hgvsp: ENSP00000382500.1:p.Arg496Gln
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 7397
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 50
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 733
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 11656
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4880
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2022
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 368
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 977
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 9589
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1315
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 463
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9961
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 297
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1918
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4945
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 581
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3176
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4651
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3106
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9036
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2735
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4095
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5194
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26680
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4733
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.041232904674423e-4
allele num: 9798
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
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: 8624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.9e-2

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 1.109e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

DP
type: SiteQuality
SIO_000300: 2.516457e6

QD
type: SiteQuality
SIO_000300: 1.396e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382510
ensembl transcript: ENST00000399601
gene symbol: CACNA1C
hgvsc: ENST00000399601.1:c.1508+15C>T
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000341092
ensembl transcript: ENST00000344100
gene symbol: CACNA1C
hgvsc: ENST00000344100.3:c.1508+15C>T
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000329877
ensembl transcript: ENST00000327702
gene symbol: CACNA1C
hgvsc: ENST00000327702.7:c.1508+15C>T
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 9860
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4945
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 977
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 463
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 250
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11583
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4701
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3175
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1315
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 582
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2020
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 370
bin: 8.75e1
variant carriers: 2

GenotypeDepth
all individuals: 51
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9580
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1917
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 195
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 732
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 7390
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 298
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 112
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8703
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4094
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4709
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26673
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 49
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4639
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2728
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3090
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5123
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.99790073474284e-5
allele num: 66690
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

FS
type: SiteQuality
SIO_000300: 3.363e0

DP
type: SiteQuality
SIO_000300: 2.512275e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.69e-1

QD
type: SiteQuality
SIO_000300: 1.39e1

MQRankSum
type: SiteQuality
SIO_000300: 2.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382547
ensembl transcript: ENST00000399638
gene symbol: CACNA1C
hgvsc: ENST00000399638.1:c.1508+19G>A
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382546
ensembl transcript: ENST00000399637
gene symbol: CACNA1C
hgvsc: ENST00000399637.1:c.1508+19G>A
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382500
ensembl transcript: ENST00000399591
gene symbol: CACNA1C
hgvsc: ENST00000399591.1:c.1508+19G>A
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 47
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11553
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9569
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 297
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 732
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 581
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 463
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 301
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2021
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1917
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1315
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3177
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 217
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4680
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9848
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 978
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 368
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4944
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7391
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4701
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4629
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3090
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 120
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8663
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2729
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 3.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 26669
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 46
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4091
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5102
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.037e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 5.024e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.992e0

MQRankSum
type: SiteQuality
SIO_000300: 1.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.52e-1

DP
type: SiteQuality
SIO_000300: 2.511171e6

VQSLOD
type: SiteQuality
SIO_000300: 6.2e-2

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000437936
ensembl transcript: ENST00000480911
gene symbol: CACNA1C
hgvsc: ENST00000480911.1:c.1508+26C>T
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382530
ensembl transcript: ENST00000399621
gene symbol: CACNA1C
hgvsc: ENST00000399621.1:c.1508+26C>T
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382515
ensembl transcript: ENST00000399606
gene symbol: CACNA1C
hgvsc: ENST00000399606.1:c.1508+26C>T
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 264
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7384
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1917
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 581
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 485
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11471
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 463
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9724
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4665
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9563
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3175
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 731
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2021
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 297
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4943
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 978
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 368
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1315
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3073
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4085
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8374
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2726
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5036
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26659
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4625
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4679
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 42
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 2.75e1
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: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
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: 11566
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.5079e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 1.109e1

VQSLOD
type: SiteQuality
SIO_000300: 2.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.074e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.684e0

MQRankSum
type: SiteQuality
SIO_000300: 3.94e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.954e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382546
ensembl transcript: ENST00000399637
gene symbol: CACNA1C
hgvsc: ENST00000399637.1:c.1508+33C>T
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000336982
ensembl transcript: ENST00000335762
gene symbol: CACNA1C
hgvsc: ENST00000335762.5:c.1583+33C>T
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000329877
ensembl transcript: ENST00000327702
gene symbol: CACNA1C
hgvsc: ENST00000327702.7:c.1508+33C>T
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 9539
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11374
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 979
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 4940
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 295
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 297
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7374
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4554
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 806
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9606
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2019
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 463
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 581
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1315
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 731
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1917
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3176
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 368
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4919
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2723
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7905
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26649
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 201
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3038
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4668
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4624
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4085
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.318571759795966e-4
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499970000599988e-5
allele num: 66668
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

FS
type: SiteQuality
SIO_000300: 2.903e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.794e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-1

DP
type: SiteQuality
SIO_000300: 2.503699e6

QD
type: SiteQuality
SIO_000300: 1.103e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.43e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382530
ensembl transcript: ENST00000399621
gene symbol: CACNA1C
hgvsc: ENST00000399621.1:c.1508+43C>T
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382500
ensembl transcript: ENST00000399591
gene symbol: CACNA1C
hgvsc: ENST00000399591.1:c.1508+43C>T
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382510
ensembl transcript: ENST00000399601
gene symbol: CACNA1C
hgvsc: ENST00000399601.1:c.1508+43C>T
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 582
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 305
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9234
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3175
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 731
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4845
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1079
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1315
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 57
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2021
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 463
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 977
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 368
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 297
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9541
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4937
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1917
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11174
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7367
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26642
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4603
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 647
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2720
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4785
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4628
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7013
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4085
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2970
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500330072615976e-5
allele num: 66652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
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: 8626
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: 11566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.08e-1

DP
type: SiteQuality
SIO_000300: 2.49813e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.14e-1

FS
type: SiteQuality
SIO_000300: 4.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.91e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.627e-1

MQ
type: SiteQuality
SIO_000300: 5.876e1

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

QD
type: SiteQuality
SIO_000300: 1.359e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382563
ensembl transcript: ENST00000399655
gene symbol: CACNA1C
hgvsc: ENST00000399655.1:c.1509-44A>T
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382526
ensembl transcript: ENST00000399617
gene symbol: CACNA1C
hgvsc: ENST00000399617.1:c.1509-44A>T
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl transcript: ENST00000491104
gene symbol: CACNA1C
hgvsc: ENST00000491104.1:n.509-44A>T
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 6793
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1045
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29883
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 900
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 515
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 114
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 888
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 67
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 218
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16991
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 715
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1103
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 368
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12500
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2815
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7405
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6590
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1080
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1129
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2548
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20028
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1350
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1688
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 306
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1526
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1632
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.219575016097875e-4
allele num: 3106
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14604
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.49321e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.543e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.9e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e0

MQRankSum
type: SiteQuality
SIO_000300: -3.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.917e0

VQSLOD
type: SiteQuality
SIO_000300: -1.013e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.54e-2

QD
type: SiteQuality
SIO_000300: 1.327e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382515
ensembl transcript: ENST00000399606
gene symbol: CACNA1C
hgvsc: ENST00000399606.1:c.1509-43A>G
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000341092
ensembl transcript: ENST00000344100
gene symbol: CACNA1C
hgvsc: ENST00000344100.3:c.1509-43A>G
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382547
ensembl transcript: ENST00000399638
gene symbol: CACNA1C
hgvsc: ENST00000399638.1:c.1509-43A>G
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 18
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6813
bin: 1.25e1
variant carriers: 21

GenotypeDepth
all individuals: 153
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 369
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 921
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1025
bin: 1.75e1
variant carriers: 3

GenotypeDepth
all individuals: 50
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29955
bin: 7.5e0
variant carriers: 32

GenotypeDepth
all individuals: 714
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 514
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16885
bin: 2.5e0
variant carriers: 7

GenotypeDepth
all individuals: 1103
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 67
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 217
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 892
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2536
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1139
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 7.75e1
variant carriers: 5

GenotypeQuality
all individuals: 342
bin: 8.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 12478
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 301
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7369
bin: 1.75e1
variant carriers: 6

GenotypeQuality
all individuals: 146
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 204
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2801
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 20120
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 282
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 6514
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1078
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1723
bin: 9.75e1
variant carriers: 37

GenotypeQuality
all individuals: 600
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1339
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 276
bin: 4.25e1
variant carriers: 1

South Asian
type: Population
allele count: 25
allele frequency: 9.607993850883935e-3
allele num: 2602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.848376934666484e-5
allele num: 14602
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3102
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1626
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 232
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

VQSLOD
type: SiteQuality
SIO_000300: 4.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.482e1

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-1

DP
type: SiteQuality
SIO_000300: 5.50496e5

FS
type: SiteQuality
SIO_000300: 5.589e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382547
ensembl transcript: ENST00000399638
gene symbol: CACNA1C
hgvsc: ENST00000399638.1:c.1509-38C>T
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382546
ensembl transcript: ENST00000399637
gene symbol: CACNA1C
hgvsc: ENST00000399637.1:c.1509-38C>T
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000266376
ensembl transcript: ENST00000347598
gene symbol: CACNA1C
hgvsc: ENST00000347598.4:c.1509-38C>T
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 6947
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 516
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1008
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16050
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 217
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30636
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 369
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 715
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1120
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 999
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 898
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 67
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6088
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1685
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5792
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12413
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2806
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22272
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1170
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1050
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2509
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1379
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2174
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1636
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3094
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2674
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 6.501950585175553e-4
allele num: 1538
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14662
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.533e0

MQ
type: SiteQuality
SIO_000300: 5.662e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.53e-2

DP
type: SiteQuality
SIO_000300: 5.59527e5

VQSLOD
type: SiteQuality
SIO_000300: -8.135e-1

QD
type: SiteQuality
SIO_000300: 1.265e1

MQRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000336982
ensembl transcript: ENST00000335762
gene symbol: CACNA1C
hgvsc: ENST00000335762.5:c.1584-32A>G
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382510
ensembl transcript: ENST00000399601
gene symbol: CACNA1C
hgvsc: ENST00000399601.1:c.1509-32A>G
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382537
ensembl transcript: ENST00000399629
gene symbol: CACNA1C
hgvsc: ENST00000399629.1:c.1509-32A>G
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 51
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7251
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 18
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 931
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1149
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1169
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 520
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 221
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14321
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 369
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31928
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 725
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 67
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 154
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 979
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2846
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1079
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1671
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 25478
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1498
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11742
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1266
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4642
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4580
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2542
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 541
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14942
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1582
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.201024327784891e-4
allele num: 3124
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2002
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2960
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

VQSLOD
type: SiteQuality
SIO_000300: 1.78e-1

QD
type: SiteQuality
SIO_000300: 1.224e1

FS
type: SiteQuality
SIO_000300: 1.999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.47e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 5.75427e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382510
ensembl transcript: ENST00000399601
gene symbol: CACNA1C
hgvsc: ENST00000399601.1:c.1509-31C>A
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382506
ensembl transcript: ENST00000399597
gene symbol: CACNA1C
hgvsc: ENST00000399597.1:c.1509-31C>A
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000336982
ensembl transcript: ENST00000335762
gene symbol: CACNA1C
hgvsc: ENST00000335762.5:c.1584-31C>A
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 50
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 222
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 18
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32574
bin: 7.5e0
variant carriers: 2

GenotypeDepth
all individuals: 18
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13575
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 116
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 28
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1326
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 735
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 893
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1174
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 370
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7251
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 515
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 946
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 67
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2972
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27937
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1709
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 4002
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 11331
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2610
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1735
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1054
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3250
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.954142782699323e-4
allele num: 15352
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3198
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1758
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2986
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1658
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2228
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.68e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.43e-1

FS
type: SiteQuality
SIO_000300: 1.0595e1

VQSLOD
type: SiteQuality
SIO_000300: -7.453e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-2

DP
type: SiteQuality
SIO_000300: 5.83694e5

QD
type: SiteQuality
SIO_000300: 1.165e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382510
ensembl transcript: ENST00000399601
gene symbol: CACNA1C
hgvsc: ENST00000399601.1:c.1509-27A>G
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382506
ensembl transcript: ENST00000399597
gene symbol: CACNA1C
hgvsc: ENST00000399597.1:c.1509-27A>G
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382549
ensembl transcript: ENST00000399641
gene symbol: CACNA1C
hgvsc: ENST00000399641.1:c.1509-27A>G
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 957
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1498
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 222
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1167
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 12293
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 154
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 67
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 519
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33023
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 7782
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1043
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 745
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2788
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10643
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 315
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1859
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2503
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3772
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4418
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26921
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1668
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1775
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1028
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1658
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15298
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3164
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3280
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1684
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1966
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.266e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.59e-1

FS
type: SiteQuality
SIO_000300: 4.9516e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.267e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.54e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.279e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.43e-1

DP
type: SiteQuality
SIO_000300: 5.94901e5

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000329877
ensembl transcript: ENST00000327702
gene symbol: CACNA1C
hgvsc: ENST00000327702.7:c.1509-17C>A
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382506
ensembl transcript: ENST00000399597
gene symbol: CACNA1C
hgvsc: ENST00000399597.1:c.1509-17C>A
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000336982
ensembl transcript: ENST00000335762
gene symbol: CACNA1C
hgvsc: ENST00000335762.5:c.1584-17C>A
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 153
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34778
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 960
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 516
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1293
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 372
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 727
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9370
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7880
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2630
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 952
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 219
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 67
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3031
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1682
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2609
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2223
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1012
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2553
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2960
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8548
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32191
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17250
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2038
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3444
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2320
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 276
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.443792766373412e-4
allele num: 4092
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.64e-2

QD
type: SiteQuality
SIO_000300: 1.316e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.30828e5

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382510
ensembl transcript: ENST00000399601
gene symbol: CACNA1C
hgvsc: ENST00000399601.1:c.1509-13G>C
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382500
ensembl transcript: ENST00000399591
gene symbol: CACNA1C
hgvsc: ENST00000399591.1:c.1509-13G>C
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382506
ensembl transcript: ENST00000399597
gene symbol: CACNA1C
hgvsc: ENST00000399597.1:c.1509-13G>C
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 3108
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 953
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 219
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 516
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8566
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 372
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34943
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 7891
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 728
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1378
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1046
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 67
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3472
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32560
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 990
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 121
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2014
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 279
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2572
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2985
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2533
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 369
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1683
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7943
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2232
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.834467120181406e-4
allele num: 3528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2106
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17826
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.613e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.52e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.77e-1

DP
type: SiteQuality
SIO_000300: 6.44187e5

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382563
ensembl transcript: ENST00000399655
gene symbol: CACNA1C
hgvsc: ENST00000399655.1:c.1509-12T>G
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382506
ensembl transcript: ENST00000399597
gene symbol: CACNA1C
hgvsc: ENST00000399597.1:c.1509-12T>G
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382530
ensembl transcript: ENST00000399621
gene symbol: CACNA1C
hgvsc: ENST00000399621.1:c.1509-12T>G
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 114
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1102
bin: 1.75e1
variant carriers: 3

GenotypeDepth
all individuals: 731
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 962
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 67
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 219
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8425
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34899
bin: 7.5e0
variant carriers: 6

GenotypeDepth
all individuals: 153
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1390
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3154
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 28
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7953
bin: 1.25e1
variant carriers: 5

GenotypeDepth
all individuals: 18
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 516
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 372
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 8.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 2904
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2033
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3446
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7818
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32174
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 281
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 338
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 472
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2973
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2563
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1688
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 990
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 271
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2250
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4676
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 2.796107817917459e-4
allele num: 17882
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 1.719690455717971e-3
allele num: 2326
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.3e-1

QD
type: SiteQuality
SIO_000300: 1.071e1

DP
type: SiteQuality
SIO_000300: 6.46762e5

FS
type: SiteQuality
SIO_000300: 6.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.48e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382530
ensembl transcript: ENST00000399621
gene symbol: CACNA1C
hgvsc: ENST00000399621.1:c.1509-5T>C
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382504
ensembl transcript: ENST00000399595
gene symbol: CACNA1C
hgvsc: ENST00000399595.1:c.1509-5T>C
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382506
ensembl transcript: ENST00000399597
gene symbol: CACNA1C
hgvsc: ENST00000399597.1:c.1509-5T>C
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382546
ensembl transcript: ENST00000399637
gene symbol: CACNA1C
hgvsc: ENST00000399637.1:c.1509-5T>C
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: true
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000266376
ensembl transcript: ENST00000347598
gene symbol: CACNA1C
hgvsc: ENST00000347598.4:c.1509-5T>C
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 542
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 755
bin: 3.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 4049
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 19
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 166
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34248
bin: 7.5e0
variant carriers: 2

GenotypeDepth
all individuals: 54
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6743
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1455
bin: 2.75e1
variant carriers: 3

GenotypeDepth
all individuals: 19
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1001
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1600
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 8662
bin: 1.25e1
variant carriers: 3

GenotypeDepth
all individuals: 25
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3026
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 184
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1978
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 898
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 312
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 31001
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 3047
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2611
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 242
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6695
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2191
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3972
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1571
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 6.75e1
variant carriers: 2

South Asian
type: Population
allele count: 1
allele frequency: 1.849112426035503e-4
allele num: 5408
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2180
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 1.525940996948118e-3
allele num: 1966
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 2.301760847047992e-4
allele num: 17378
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2298
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3230
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.084e2

MQ
type: SiteQuality
SIO_000300: 5.871e1

QD
type: SiteQuality
SIO_000300: 4.0e-1

DP
type: SiteQuality
SIO_000300: 6.84292e5

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.806e0

FS
type: SiteQuality
SIO_000300: 3.33046e2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.59e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.566e0

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382549
ensembl transcript: ENST00000399641
gene symbol: CACNA1C
hgvsc: ENST00000399641.1:c.1511G>A
hgvsp: ENSP00000382549.1:p.Arg504His
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000151067
ensembl transcript: ENST00000491104
gene symbol: CACNA1C
hgvsc: ENST00000491104.1:n.511G>A
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000341092
ensembl transcript: ENST00000344100
gene symbol: CACNA1C
hgvsc: ENST00000344100.3:c.1511G>A
hgvsp: ENSP00000341092.3:p.Arg504His
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000385724
ensembl transcript: ENST00000402845
gene symbol: CACNA1C
hgvsc: ENST00000402845.3:c.1511G>A
hgvsp: ENSP00000385724.3:p.Arg504His
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000329877
ensembl transcript: ENST00000327702
gene symbol: CACNA1C
hgvsc: ENST00000327702.7:c.1511G>A
hgvsp: ENSP00000329877.7:p.Arg504His
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382530
ensembl transcript: ENST00000399621
gene symbol: CACNA1C
hgvsc: ENST00000399621.1:c.1511G>A
hgvsp: ENSP00000382530.1:p.Arg504His
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382537
ensembl transcript: ENST00000399629
gene symbol: CACNA1C
hgvsc: ENST00000399629.1:c.1511G>A
hgvsp: ENSP00000382537.1:p.Arg504His
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 130
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1942
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 397
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5663
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1486
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 257
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8368
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 177
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 550
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33846
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1050
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5393
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 753
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1200
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2319
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 891
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33869
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2802
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5290
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1872
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6192
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1797
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 913
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 399
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2702
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2784
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21956
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2886
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 348
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4186
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.542257865515114e-4
allele num: 6484
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.28483e5

QD
type: SiteQuality
SIO_000300: 5.43e0

FS
type: SiteQuality
SIO_000300: 4.933e0

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.23e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382549
ensembl transcript: ENST00000399641
gene symbol: CACNA1C
hgvsc: ENST00000399641.1:c.1520G>A
hgvsp: ENSP00000382549.1:p.Arg507His
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382512
ensembl transcript: ENST00000399603
gene symbol: CACNA1C
hgvsc: ENST00000399603.1:c.1520G>A
hgvsp: ENSP00000382512.1:p.Arg507His
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382547
ensembl transcript: ENST00000399638
gene symbol: CACNA1C
hgvsc: ENST00000399638.1:c.1520G>A
hgvsp: ENSP00000382547.1:p.Arg507His
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382500
ensembl transcript: ENST00000399591
gene symbol: CACNA1C
hgvsc: ENST00000399591.1:c.1520G>A
hgvsp: ENSP00000382500.1:p.Arg507His
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382542
ensembl transcript: ENST00000399634
gene symbol: CACNA1C
hgvsc: ENST00000399634.1:c.1520G>A
hgvsp: ENSP00000382542.1:p.Arg507His
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 4624
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6718
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 752
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 397
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33282
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1099
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 550
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2191
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1474
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 8386
bin: 1.25e1
variant carriers: 3

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 257
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2680
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1088
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4579
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33854
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1694
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 849
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 387
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2224
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1875
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 302
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 984
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7373
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 279
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 3.298153034300791e-4
allele num: 3032
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 6.920415224913495e-4
allele num: 2890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.292582417582418e-5
allele num: 23296
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2808
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 366
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7428
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.09e-2

QD
type: SiteQuality
SIO_000300: 6.72e0

FS
type: SiteQuality
SIO_000300: 5.383e0

VQSLOD
type: SiteQuality
SIO_000300: -9.18e-1

DP
type: SiteQuality
SIO_000300: 7.53336e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000336982
ensembl transcript: ENST00000335762
gene symbol: CACNA1C
hgvsc: ENST00000335762.5:c.1597C>T
hgvsp: ENSP00000336982.5:p.Arg533Trp
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382546
ensembl transcript: ENST00000399637
gene symbol: CACNA1C
hgvsc: ENST00000399637.1:c.1522C>T
hgvsp: ENSP00000382546.1:p.Arg508Trp
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382530
ensembl transcript: ENST00000399621
gene symbol: CACNA1C
hgvsc: ENST00000399621.1:c.1522C>T
hgvsp: ENSP00000382530.1:p.Arg508Trp
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382563
ensembl transcript: ENST00000399655
gene symbol: CACNA1C
hgvsc: ENST00000399655.1:c.1522C>T
hgvsp: ENSP00000382563.1:p.Arg508Trp
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000151067
ensembl transcript: ENST00000491104
gene symbol: CACNA1C
hgvsc: ENST00000491104.1:n.522C>T
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 29
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 550
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4576
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 754
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6710
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8471
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33060
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 397
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 257
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2266
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1104
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 61
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1577
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4522
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 995
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6878
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2671
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 593
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32709
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 889
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2693
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1873
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2256
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1131
bin: 1.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2806
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2924
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3024
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4338
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.253147329023477e-5
allele num: 23512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.481e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 7.56159e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.11e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382530
ensembl transcript: ENST00000399621
gene symbol: CACNA1C
hgvsc: ENST00000399621.1:c.1523G>A
hgvsp: ENSP00000382530.1:p.Arg508Gln
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382563
ensembl transcript: ENST00000399655
gene symbol: CACNA1C
hgvsc: ENST00000399655.1:c.1523G>A
hgvsp: ENSP00000382563.1:p.Arg508Gln
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382506
ensembl transcript: ENST00000399597
gene symbol: CACNA1C
hgvsc: ENST00000399597.1:c.1523G>A
hgvsp: ENSP00000382506.1:p.Arg508Gln
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000266376
ensembl transcript: ENST00000347598
gene symbol: CACNA1C
hgvsc: ENST00000347598.4:c.1523G>A
hgvsp: ENSP00000266376.6:p.Arg508Gln
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382515
ensembl transcript: ENST00000399606
gene symbol: CACNA1C
hgvsc: ENST00000399606.1:c.1523G>A
hgvsp: ENSP00000382515.1:p.Arg508Gln
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32883
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8505
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 130
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1636
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6856
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2315
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 257
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 551
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1118
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4461
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 754
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 397
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32934
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4487
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2208
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2299
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2624
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1120
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 852
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7324
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1019
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1874
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.227257355427798e-5
allele num: 23656
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2814
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4338
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2938
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 380
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7684
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.282994090610637e-4
allele num: 3046
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.447e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.39e-1

DP
type: SiteQuality
SIO_000300: 7.61156e5

QD
type: SiteQuality
SIO_000300: 2.06e0

FS
type: SiteQuality
SIO_000300: 6.592e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.15e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382542
ensembl transcript: ENST00000399634
gene symbol: CACNA1C
hgvsc: ENST00000399634.1:c.1524G>A
hgvsp: ENST00000399634.1:c.1524G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000151067
ensembl transcript: ENST00000491104
gene symbol: CACNA1C
hgvsc: ENST00000491104.1:n.524G>A
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000437936
ensembl transcript: ENST00000480911
gene symbol: CACNA1C
hgvsc: ENST00000480911.1:c.1524G>A
hgvsp: ENST00000480911.1:c.1524G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000336982
ensembl transcript: ENST00000335762
gene symbol: CACNA1C
hgvsc: ENST00000335762.5:c.1599G>A
hgvsp: ENST00000335762.5:c.1599G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382547
ensembl transcript: ENST00000399638
gene symbol: CACNA1C
hgvsc: ENST00000399638.1:c.1524G>A
hgvsp: ENST00000399638.1:c.1524G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 1536
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7020
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 257
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1121
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4388
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32890
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 2337
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 753
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 8486
bin: 1.25e1
variant carriers: 3

GenotypeDepth
all individuals: 550
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 397
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33399
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1996
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7707
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1876
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 398
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2631
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4377
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 242
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2204
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1064
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1050
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 416
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 2.279981760145919e-4
allele num: 4386
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7818
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 6.591957811470006e-4
allele num: 3034
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24032
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3094
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 7.062146892655367e-4
allele num: 2832
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.28e0

QD
type: SiteQuality
SIO_000300: 1.087e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.64e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.51e-1

DP
type: SiteQuality
SIO_000300: 7.63483e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.04e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

FS
type: SiteQuality
SIO_000300: 0.0e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382530
ensembl transcript: ENST00000399621
gene symbol: CACNA1C
hgvsc: ENST00000399621.1:c.1548G>C
hgvsp: ENSP00000382530.1:p.Lys516Asn
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000385724
ensembl transcript: ENST00000402845
gene symbol: CACNA1C
hgvsc: ENST00000402845.3:c.1548G>C
hgvsp: ENSP00000385724.3:p.Lys516Asn
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382510
ensembl transcript: ENST00000399601
gene symbol: CACNA1C
hgvsc: ENST00000399601.1:c.1548G>C
hgvsp: ENSP00000382510.1:p.Lys516Asn
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382500
ensembl transcript: ENST00000399591
gene symbol: CACNA1C
hgvsc: ENST00000399591.1:c.1548G>C
hgvsp: ENSP00000382500.1:p.Lys516Asn
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382515
ensembl transcript: ENST00000399606
gene symbol: CACNA1C
hgvsc: ENST00000399606.1:c.1548G>C
hgvsp: ENSP00000382515.1:p.Lys516Asn
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 38
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 397
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1203
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4008
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 257
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 759
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 552
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9274
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31210
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 2761
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1977
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7343
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8269
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2680
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2231
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 489
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1153
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4181
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 31722
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1328
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1875
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2667
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 907
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 422
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26202
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4594
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3266
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 426
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2940
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8928
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3364
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.88337e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

QD
type: SiteQuality
SIO_000300: 1.379e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: synonymous_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382563
ensembl transcript: ENST00000399655
gene symbol: CACNA1C
hgvsc: ENST00000399655.1:c.1554C>T
hgvsp: ENST00000399655.1:c.1554C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: synonymous_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000336982
ensembl transcript: ENST00000335762
gene symbol: CACNA1C
hgvsc: ENST00000335762.5:c.1629C>T
hgvsp: ENST00000335762.5:c.1629C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: synonymous_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382557
ensembl transcript: ENST00000399649
gene symbol: CACNA1C
hgvsc: ENST00000399649.1:c.1554C>T
hgvsp: ENST00000399649.1:c.1554C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: true
clinical significance: uncertain_significance
consequence: synonymous_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000266376
ensembl transcript: ENST00000347598
gene symbol: CACNA1C
hgvsc: ENST00000347598.4:c.1554C>T
hgvsp: ENST00000347598.4:c.1554C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: synonymous_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382546
ensembl transcript: ENST00000399637
gene symbol: CACNA1C
hgvsc: ENST00000399637.1:c.1554C>T
hgvsp: ENST00000399637.1:c.1554C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: synonymous_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000437936
ensembl transcript: ENST00000480911
gene symbol: CACNA1C
hgvsc: ENST00000480911.1:c.1554C>T
hgvsp: ENST00000480911.1:c.1554C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: synonymous_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000329877
ensembl transcript: ENST00000327702
gene symbol: CACNA1C
hgvsc: ENST00000327702.7:c.1554C>T
hgvsp: ENST00000327702.7:c.1554C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 178
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 7217
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30595
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 85
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 554
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 762
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 29
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9720
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 258
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 397
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4031
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1257
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2082
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2873
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8443
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1394
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1171
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2730
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4212
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2267
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 949
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1880
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 185
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31634
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2430
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 216
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26840
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 4.415011037527594e-4
allele num: 9060
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2958
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.27e-1

QD
type: SiteQuality
SIO_000300: 1.533e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.03e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

FS
type: SiteQuality
SIO_000300: 6.824e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.205e0

DP
type: SiteQuality
SIO_000300: 7.93762e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-2

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382546
ensembl transcript: ENST00000399637
gene symbol: CACNA1C
hgvsc: ENST00000399637.1:c.1555G>A
hgvsp: ENSP00000382546.1:p.Ala519Thr
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000151067
ensembl transcript: ENST00000491104
gene symbol: CACNA1C
hgvsc: ENST00000491104.1:n.555G>A
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000329877
ensembl transcript: ENST00000327702
gene symbol: CACNA1C
hgvsc: ENST00000327702.7:c.1555G>A
hgvsp: ENSP00000329877.7:p.Ala519Thr
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382547
ensembl transcript: ENST00000399638
gene symbol: CACNA1C
hgvsc: ENST00000399638.1:c.1555G>A
hgvsp: ENSP00000382547.1:p.Ala519Thr
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000336982
ensembl transcript: ENST00000335762
gene symbol: CACNA1C
hgvsc: ENST00000335762.5:c.1630G>A
hgvsp: ENSP00000336982.5:p.Ala544Thr
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 2106
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1265
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30451
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2895
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7212
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 398
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4038
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 553
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9819
bin: 1.25e1
variant carriers: 3

GenotypeDepth
all individuals: 257
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 760
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2725
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 178
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2256
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1878
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4247
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2321
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8488
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1430
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31566
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 947
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1171
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2946
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4656
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9082
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3278
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.118151323145732e-4
allele num: 26830
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.96e-1

DP
type: SiteQuality
SIO_000300: 7.94844e5

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

QD
type: SiteQuality
SIO_000300: 8.49e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.31e-1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000341092
ensembl transcript: ENST00000344100
gene symbol: CACNA1C
hgvsc: ENST00000344100.3:c.1557C>A
hgvsp: ENST00000344100.3:c.1557C>A(p.%3D)
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382510
ensembl transcript: ENST00000399601
gene symbol: CACNA1C
hgvsc: ENST00000399601.1:c.1557C>A
hgvsp: ENST00000399601.1:c.1557C>A(p.%3D)
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382512
ensembl transcript: ENST00000399603
gene symbol: CACNA1C
hgvsc: ENST00000399603.1:c.1557C>A
hgvsp: ENST00000399603.1:c.1557C>A(p.%3D)
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382530
ensembl transcript: ENST00000399621
gene symbol: CACNA1C
hgvsc: ENST00000399621.1:c.1557C>A
hgvsp: ENST00000399621.1:c.1557C>A(p.%3D)
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382504
ensembl transcript: ENST00000399595
gene symbol: CACNA1C
hgvsc: ENST00000399595.1:c.1557C>A
hgvsp: ENST00000399595.1:c.1557C>A(p.%3D)
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 1273
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9869
bin: 1.25e1
variant carriers: 5

GenotypeDepth
all individuals: 30317
bin: 7.5e0
variant carriers: 3

GenotypeDepth
all individuals: 19
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 397
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 553
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 29
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2082
bin: 1.75e1
variant carriers: 6

GenotypeDepth
all individuals: 4070
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 767
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2921
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7244
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 86
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 176
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 258
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 8620
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4279
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 234
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2282
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1402
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1896
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 388
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 416
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2232
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2706
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1170
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31653
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 933
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 9.25e1
variant carriers: 1

East Asian
type: Population
allele count: 14
allele frequency: 4.201680672268907e-3
allele num: 3332
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4670
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 432
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.097453906935909e-4
allele num: 9112
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27038
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3522
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2950
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.032e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.96471e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.35e0

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382530
ensembl transcript: ENST00000399621
gene symbol: CACNA1C
hgvsc: ENST00000399621.1:c.1557C>T
hgvsp: ENST00000399621.1:c.1557C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382557
ensembl transcript: ENST00000399649
gene symbol: CACNA1C
hgvsc: ENST00000399649.1:c.1557C>T
hgvsp: ENST00000399649.1:c.1557C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000151067
ensembl transcript: ENST00000491104
gene symbol: CACNA1C
hgvsc: ENST00000491104.1:n.557C>T
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382510
ensembl transcript: ENST00000399601
gene symbol: CACNA1C
hgvsc: ENST00000399601.1:c.1557C>T
hgvsp: ENST00000399601.1:c.1557C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382547
ensembl transcript: ENST00000399638
gene symbol: CACNA1C
hgvsc: ENST00000399638.1:c.1557C>T
hgvsp: ENST00000399638.1:c.1557C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 89
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30317
bin: 7.5e0
variant carriers: 3

GenotypeDepth
all individuals: 130
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2921
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 553
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 86
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7244
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4070
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9869
bin: 1.25e1
variant carriers: 4

GenotypeDepth
all individuals: 258
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2082
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 767
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1273
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 397
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4279
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1402
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31653
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2232
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1170
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1896
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 181
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2706
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 416
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 933
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 308
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 8620
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2282
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 7.396996819291368e-5
allele num: 27038
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2950
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.097453906935909e-4
allele num: 9112
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 6.423982869379015e-4
allele num: 4670
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3332
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3522
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 432
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.96471e5

VQSLOD
type: SiteQuality
SIO_000300: 4.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

QD
type: SiteQuality
SIO_000300: 1.032e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000385896
ensembl transcript: ENST00000406454
gene symbol: CACNA1C
hgvsc: ENST00000406454.3:c.1558G>A
hgvsp: ENSP00000385896.3:p.Ala520Thr
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382515
ensembl transcript: ENST00000399606
gene symbol: CACNA1C
hgvsc: ENST00000399606.1:c.1558G>A
hgvsp: ENSP00000382515.1:p.Ala520Thr
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382546
ensembl transcript: ENST00000399637
gene symbol: CACNA1C
hgvsc: ENST00000399637.1:c.1558G>A
hgvsp: ENSP00000382546.1:p.Ala520Thr
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382557
ensembl transcript: ENST00000399649
gene symbol: CACNA1C
hgvsc: ENST00000399649.1:c.1558G>A
hgvsp: ENSP00000382557.1:p.Ala520Thr
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382506
ensembl transcript: ENST00000399597
gene symbol: CACNA1C
hgvsc: ENST00000399597.1:c.1558G>A
hgvsp: ENSP00000382506.1:p.Ala520Thr
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 30108
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 2156
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 131
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9965
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 556
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7268
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 397
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4059
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 767
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2941
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 257
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1276
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2228
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2097
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1431
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4366
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31589
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8694
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1880
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 215
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2690
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1177
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4684
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 428
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26946
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3308
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 3.394433129667345e-4
allele num: 2946
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9110
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3502
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.189e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.16e-2

MQ
type: SiteQuality
SIO_000300: 5.889e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.701e0

VQSLOD
type: SiteQuality
SIO_000300: 3.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 7.98466e5

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382546
ensembl transcript: ENST00000399637
gene symbol: CACNA1C
hgvsc: ENST00000399637.1:c.1578C>T
hgvsp: ENST00000399637.1:c.1578C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000341092
ensembl transcript: ENST00000344100
gene symbol: CACNA1C
hgvsc: ENST00000344100.3:c.1578C>T
hgvsp: ENST00000344100.3:c.1578C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382500
ensembl transcript: ENST00000399591
gene symbol: CACNA1C
hgvsc: ENST00000399591.1:c.1578C>T
hgvsp: ENST00000399591.1:c.1578C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382547
ensembl transcript: ENST00000399638
gene symbol: CACNA1C
hgvsc: ENST00000399638.1:c.1578C>T
hgvsp: ENST00000399638.1:c.1578C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000151067
ensembl transcript: ENST00000491104
gene symbol: CACNA1C
hgvsc: ENST00000491104.1:n.578C>T
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 397
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2923
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2567
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 766
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 552
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29555
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4365
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10345
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 257
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1274
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6733
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 131
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2853
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2248
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4908
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1797
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2461
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8204
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1102
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30786
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1146
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1880
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 216
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.608545034642032e-5
allele num: 27712
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4726
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3350
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9164
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3668
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3018
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.14e-2

FS
type: SiteQuality
SIO_000300: 7.701e0

VQSLOD
type: SiteQuality
SIO_000300: 3.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

DP
type: SiteQuality
SIO_000300: 7.93841e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

QD
type: SiteQuality
SIO_000300: 1.265e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382530
ensembl transcript: ENST00000399621
gene symbol: CACNA1C
hgvsc: ENST00000399621.1:c.1582T>C
hgvsp: ENSP00000382530.1:p.Trp528Arg
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000336982
ensembl transcript: ENST00000335762
gene symbol: CACNA1C
hgvsc: ENST00000335762.5:c.1657T>C
hgvsp: ENSP00000336982.5:p.Trp553Arg
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382547
ensembl transcript: ENST00000399638
gene symbol: CACNA1C
hgvsc: ENST00000399638.1:c.1582T>C
hgvsp: ENSP00000382547.1:p.Trp528Arg
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382500
ensembl transcript: ENST00000399591
gene symbol: CACNA1C
hgvsc: ENST00000399591.1:c.1582T>C
hgvsp: ENSP00000382500.1:p.Trp528Arg
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382537
ensembl transcript: ENST00000399629
gene symbol: CACNA1C
hgvsc: ENST00000399629.1:c.1582T>C
hgvsp: ENSP00000382537.1:p.Trp528Arg
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 61
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29514
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 552
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4463
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 398
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1279
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2645
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10342
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 6580
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2900
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 131
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 769
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2876
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 452
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3154
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 338
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5161
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29301
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1198
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7639
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2198
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1122
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2529
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1879
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 306
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4656
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2872
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9142
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3294
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 420
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.67728175332794e-5
allele num: 27194
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.47e-1

DP
type: SiteQuality
SIO_000300: 7.91438e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.12e-2

FS
type: SiteQuality
SIO_000300: 1.808e0

QD
type: SiteQuality
SIO_000300: 9.380000000000001e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382506
ensembl transcript: ENST00000399597
gene symbol: CACNA1C
hgvsc: ENST00000399597.1:c.1589T>G
hgvsp: ENSP00000382506.1:p.Val530Gly
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000437936
ensembl transcript: ENST00000480911
gene symbol: CACNA1C
hgvsc: ENST00000480911.1:c.1589T>G
hgvsp: ENSP00000437936.1:p.Val530Gly
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000151067
ensembl transcript: ENST00000491104
gene symbol: CACNA1C
hgvsc: ENST00000491104.1:n.589T>G
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382563
ensembl transcript: ENST00000399655
gene symbol: CACNA1C
hgvsc: ENST00000399655.1:c.1589T>G
hgvsp: ENSP00000382563.1:p.Val530Gly
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382537
ensembl transcript: ENST00000399629
gene symbol: CACNA1C
hgvsc: ENST00000399629.1:c.1589T>G
hgvsp: ENSP00000382537.1:p.Val530Gly
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 938
bin: 3.25e1
variant carriers: 8

GenotypeDepth
all individuals: 145
bin: 8.75e1
variant carriers: 63

GenotypeDepth
all individuals: 170
bin: 7.75e1
variant carriers: 64

GenotypeDepth
all individuals: 5852
bin: 2.25e1
variant carriers: 25

GenotypeDepth
all individuals: 199
bin: 6.25e1
variant carriers: 31

GenotypeDepth
all individuals: 123
bin: 9.25e1
variant carriers: 70

GenotypeDepth
all individuals: 2449
bin: 2.75e1
variant carriers: 12

GenotypeDepth
all individuals: 594
bin: 3.75e1
variant carriers: 5

GenotypeDepth
all individuals: 206
bin: 5.75e1
variant carriers: 24

GenotypeDepth
all individuals: 12169
bin: 1.25e1
variant carriers: 82

GenotypeDepth
all individuals: 358
bin: 4.75e1
variant carriers: 16

GenotypeDepth
all individuals: 4460
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3387
bin: 1.75e1
variant carriers: 60

GenotypeDepth
all individuals: 230
bin: 5.25e1
variant carriers: 15

GenotypeDepth
all individuals: 459
bin: 4.25e1
variant carriers: 6

GenotypeDepth
all individuals: 532
bin: 9.75e1
variant carriers: 374

GenotypeDepth
all individuals: 181
bin: 7.25e1
variant carriers: 57

GenotypeDepth
all individuals: 162
bin: 8.25e1
variant carriers: 62

GenotypeDepth
all individuals: 27479
bin: 7.5e0
variant carriers: 20

GenotypeDepth
all individuals: 175
bin: 6.75e1
variant carriers: 46

GenotypeQuality
all individuals: 392
bin: 5.25e1
variant carriers: 19

GenotypeQuality
all individuals: 6267
bin: 6.25e1
variant carriers: 8

GenotypeQuality
all individuals: 8470
bin: 2.5e0
variant carriers: 13

GenotypeQuality
all individuals: 1631
bin: 3.25e1
variant carriers: 23

GenotypeQuality
all individuals: 236
bin: 7.25e1
variant carriers: 18

GenotypeQuality
all individuals: 271
bin: 5.75e1
variant carriers: 14

GenotypeQuality
all individuals: 462
bin: 4.75e1
variant carriers: 20

GenotypeQuality
all individuals: 3549
bin: 1.25e1
variant carriers: 10

GenotypeQuality
all individuals: 2024
bin: 2.75e1
variant carriers: 28

GenotypeQuality
all individuals: 21919
bin: 2.25e1
variant carriers: 31

GenotypeQuality
all individuals: 5796
bin: 7.5e0
variant carriers: 11

GenotypeQuality
all individuals: 245
bin: 7.75e1
variant carriers: 17

GenotypeQuality
all individuals: 4406
bin: 1.75e1
variant carriers: 18

GenotypeQuality
all individuals: 1953
bin: 9.75e1
variant carriers: 723

GenotypeQuality
all individuals: 463
bin: 4.25e1
variant carriers: 28

GenotypeQuality
all individuals: 719
bin: 6.75e1
variant carriers: 11

GenotypeQuality
all individuals: 232
bin: 8.25e1
variant carriers: 10

GenotypeQuality
all individuals: 142
bin: 8.75e1
variant carriers: 6

GenotypeQuality
all individuals: 192
bin: 9.25e1
variant carriers: 7

GenotypeQuality
all individuals: 899
bin: 3.75e1
variant carriers: 25

Latino
type: Population
allele count: 23
allele frequency: 9.395424836601307e-3
allele num: 2448
num of homozygotes: 0

African
type: Population
allele count: 231
allele frequency: 7.120838471023427e-2
allele num: 3244
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 1.025757921130613e-3
allele num: 8774
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 659
allele frequency: 3.163098780839013e-2
allele num: 20834
num of homozygotes: 0

East Asian
type: Population
allele count: 31
allele frequency: 1.350174216027875e-2
allele num: 2296
num of homozygotes: 0

Other
type: Population
allele count: 9
allele frequency: 2.694610778443114e-2
allele num: 334
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 9
allele frequency: 4.972375690607734e-3
allele num: 1810
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-2

QD
type: SiteQuality
SIO_000300: 4.56e0

DP
type: SiteQuality
SIO_000300: 8.72796e5

FS
type: SiteQuality
SIO_000300: 3.16432e2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.658e0

VQSLOD
type: SiteQuality
SIO_000300: -4.653e2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.84e0

MQRankSum
type: SiteQuality
SIO_000300: -3.16e-1

MQ
type: SiteQuality
SIO_000300: 5.884e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.843e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382537
ensembl transcript: ENST00000399629
gene symbol: CACNA1C
hgvsc: ENST00000399629.1:c.1591A>G
hgvsp: ENSP00000382537.1:p.Ile531Val
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000341092
ensembl transcript: ENST00000344100
gene symbol: CACNA1C
hgvsc: ENST00000344100.3:c.1591A>G
hgvsp: ENSP00000341092.3:p.Ile531Val
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382563
ensembl transcript: ENST00000399655
gene symbol: CACNA1C
hgvsc: ENST00000399655.1:c.1591A>G
hgvsp: ENSP00000382563.1:p.Ile531Val
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000437936
ensembl transcript: ENST00000480911
gene symbol: CACNA1C
hgvsc: ENST00000480911.1:c.1591A>G
hgvsp: ENSP00000437936.1:p.Ile531Val
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000266376
ensembl transcript: ENST00000347598
gene symbol: CACNA1C
hgvsc: ENST00000347598.4:c.1591A>G
hgvsp: ENSP00000266376.6:p.Ile531Val
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 11084
bin: 1.25e1
variant carriers: 3

GenotypeDepth
all individuals: 2785
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 4858
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 28870
bin: 7.5e0
variant carriers: 2

GenotypeDepth
all individuals: 1164
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 699
bin: 3.75e1
variant carriers: 5

GenotypeDepth
all individuals: 379
bin: 4.75e1
variant carriers: 21

GenotypeDepth
all individuals: 522
bin: 4.25e1
variant carriers: 6

GenotypeDepth
all individuals: 151
bin: 9.75e1
variant carriers: 76

GenotypeDepth
all individuals: 42
bin: 8.75e1
variant carriers: 13

GenotypeDepth
all individuals: 80
bin: 8.25e1
variant carriers: 29

GenotypeDepth
all individuals: 42
bin: 9.25e1
variant carriers: 16

GenotypeDepth
all individuals: 127
bin: 7.25e1
variant carriers: 41

GenotypeDepth
all individuals: 286
bin: 5.25e1
variant carriers: 28

GenotypeDepth
all individuals: 67
bin: 7.75e1
variant carriers: 21

GenotypeDepth
all individuals: 2662
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6005
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 206
bin: 5.75e1
variant carriers: 28

GenotypeDepth
all individuals: 131
bin: 6.75e1
variant carriers: 42

GenotypeDepth
all individuals: 163
bin: 6.25e1
variant carriers: 34

GenotypeQuality
all individuals: 1926
bin: 9.75e1
variant carriers: 329

GenotypeQuality
all individuals: 2505
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 27992
bin: 2.25e1
variant carriers: 5

GenotypeQuality
all individuals: 492
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 173
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2518
bin: 3.25e1
variant carriers: 4

GenotypeQuality
all individuals: 2959
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7607
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 327
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1322
bin: 2.5e0
variant carriers: 5

GenotypeQuality
all individuals: 346
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 92
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 454
bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1228
bin: 3.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1023
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 271
bin: 5.25e1
variant carriers: 3

GenotypeQuality
all individuals: 5371
bin: 7.5e0
variant carriers: 4

GenotypeQuality
all individuals: 3159
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 248
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2504
num of homozygotes: 0

African
type: Population
allele count: 119
allele frequency: 2.702089009990917e-2
allele num: 4404
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 5.138746145940391e-4
allele num: 3892
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 9.950248756218905e-3
allele num: 402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 231
allele frequency: 8.620046272109858e-3
allele num: 26798
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9252
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.636e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.97e-2

MQ
type: SiteQuality
SIO_000300: 5.802e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.921e0

MQRankSum
type: SiteQuality
SIO_000300: -8.21e-1

QD
type: SiteQuality
SIO_000300: 7.26e0

FS
type: SiteQuality
SIO_000300: 1.71723e2

VQSLOD
type: SiteQuality
SIO_000300: -1.443e2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.41e0

DP
type: SiteQuality
SIO_000300: 8.02389e5

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000266376
ensembl transcript: ENST00000347598
gene symbol: CACNA1C
hgvsc: ENST00000347598.4:c.1596C>T
hgvsp: ENST00000347598.4:c.1596C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000151067
ensembl transcript: ENST00000491104
gene symbol: CACNA1C
hgvsc: ENST00000491104.1:n.596C>T
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000437936
ensembl transcript: ENST00000480911
gene symbol: CACNA1C
hgvsc: ENST00000480911.1:c.1596C>T
hgvsp: ENST00000480911.1:c.1596C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000341092
ensembl transcript: ENST00000344100
gene symbol: CACNA1C
hgvsc: ENST00000344100.3:c.1596C>T
hgvsp: ENST00000344100.3:c.1596C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382500
ensembl transcript: ENST00000399591
gene symbol: CACNA1C
hgvsc: ENST00000399591.1:c.1596C>T
hgvsp: ENST00000399591.1:c.1596C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 2809
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1295
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4898
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10970
bin: 1.25e1
variant carriers: 4

GenotypeDepth
all individuals: 6126
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 9.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 2587
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28941
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 76
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 563
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 258
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 809
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 57
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 377
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5414
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3597
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 355
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1176
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1146
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27763
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 7699
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1090
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2552
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 365
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2801
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2366
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1746
bin: 9.75e1
variant carriers: 5

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.089087344805053e-4
allele num: 9182
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.77623542476402e-4
allele num: 3602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.50105073551486e-4
allele num: 26648
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.103662321539416e-4
allele num: 3222
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 9.041591320072332e-4
allele num: 4424
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2532
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.425e0

MQ
type: SiteQuality
SIO_000300: 5.861e1

MQRankSum
type: SiteQuality
SIO_000300: -6.78e-1

QD
type: SiteQuality
SIO_000300: 5.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.7e-1

DP
type: SiteQuality
SIO_000300: 7.8529e5

FS
type: SiteQuality
SIO_000300: 1.19828e2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.48e-2

VQSLOD
type: SiteQuality
SIO_000300: -6.689e1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000437936
ensembl transcript: ENST00000480911
gene symbol: CACNA1C
hgvsc: ENST00000480911.1:c.1599G>A
hgvsp: ENST00000480911.1:c.1599G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382557
ensembl transcript: ENST00000399649
gene symbol: CACNA1C
hgvsc: ENST00000399649.1:c.1599G>A
hgvsp: ENST00000399649.1:c.1599G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382549
ensembl transcript: ENST00000399641
gene symbol: CACNA1C
hgvsc: ENST00000399641.1:c.1599G>A
hgvsp: ENST00000399641.1:c.1599G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382510
ensembl transcript: ENST00000399601
gene symbol: CACNA1C
hgvsc: ENST00000399601.1:c.1599G>A
hgvsp: ENST00000399601.1:c.1599G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000151067
ensembl transcript: ENST00000491104
gene symbol: CACNA1C
hgvsc: ENST00000491104.1:n.599G>A
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 56
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29277
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 186
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1266
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 810
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 257
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2330
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 21
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4799
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2835
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 571
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10638
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6511
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 388
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2285
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1151
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1132
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2867
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1753
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 362
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2067
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8435
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5099
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30049
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2382
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9262
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4528
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3864
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.667302332404283e-5
allele num: 27268
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.13e-2

QD
type: SiteQuality
SIO_000300: 1.628e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.612e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 7.86468e5

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382557
ensembl transcript: ENST00000399649
gene symbol: CACNA1C
hgvsc: ENST00000399649.1:c.1614G>A
hgvsp: ENST00000399649.1:c.1614G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382500
ensembl transcript: ENST00000399591
gene symbol: CACNA1C
hgvsc: ENST00000399591.1:c.1614G>A
hgvsp: ENST00000399591.1:c.1614G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000336982
ensembl transcript: ENST00000335762
gene symbol: CACNA1C
hgvsc: ENST00000335762.5:c.1689G>A
hgvsp: ENST00000335762.5:c.1689G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000151067
ensembl transcript: ENST00000491104
gene symbol: CACNA1C
hgvsc: ENST00000491104.1:n.614G>A
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382512
ensembl transcript: ENST00000399603
gene symbol: CACNA1C
hgvsc: ENST00000399603.1:c.1614G>A
hgvsp: ENST00000399603.1:c.1614G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 809
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4282
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1264
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7392
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10313
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2046
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 29586
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 2803
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 42
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 186
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 21
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 256
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 569
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 388
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 86
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 348
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2465
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30986
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8913
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1124
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1497
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4430
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1020
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2565
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2086
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1756
bin: 9.75e1
variant carriers: 5

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3348
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 7.242702976750923e-5
allele num: 27614
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.243944636678201e-4
allele num: 9248
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4490
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.14e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.99e-1

FS
type: SiteQuality
SIO_000300: 6.558e0

VQSLOD
type: SiteQuality
SIO_000300: 5.93e-1

DP
type: SiteQuality
SIO_000300: 7.97605e5

QD
type: SiteQuality
SIO_000300: 1.035e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000341092
ensembl transcript: ENST00000344100
gene symbol: CACNA1C
hgvsc: ENST00000344100.3:c.1640A>G
hgvsp: ENSP00000341092.3:p.Asn547Ser
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382510
ensembl transcript: ENST00000399601
gene symbol: CACNA1C
hgvsc: ENST00000399601.1:c.1640A>G
hgvsp: ENSP00000382510.1:p.Asn547Ser
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382530
ensembl transcript: ENST00000399621
gene symbol: CACNA1C
hgvsc: ENST00000399621.1:c.1640A>G
hgvsp: ENSP00000382530.1:p.Asn547Ser
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382557
ensembl transcript: ENST00000399649
gene symbol: CACNA1C
hgvsc: ENST00000399649.1:c.1640A>G
hgvsp: ENSP00000382557.1:p.Asn547Ser
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000151067
ensembl transcript: ENST00000491104
gene symbol: CACNA1C
hgvsc: ENST00000491104.1:n.640A>G
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 56
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2850
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9590
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3830
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 85
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 186
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 568
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 256
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1251
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9234
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 803
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1287
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 388
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29648
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1475
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1751
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33559
bin: 2.25e1
variant carriers: 2

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

GenotypeQuality
all individuals: 267
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1396
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2004
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3925
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10907
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4564
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 420
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4198
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9260
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.475359699728922e-5
allele num: 28774
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.899999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 4.075e0

QD
type: SiteQuality
SIO_000300: 9.98e0

DP
type: SiteQuality
SIO_000300: 8.17614e5

MQRankSum
type: SiteQuality
SIO_000300: -2.31e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382530
ensembl transcript: ENST00000399621
gene symbol: CACNA1C
hgvsc: ENST00000399621.1:c.1649A>G
hgvsp: ENSP00000382530.1:p.Asn550Ser
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382549
ensembl transcript: ENST00000399641
gene symbol: CACNA1C
hgvsc: ENST00000399641.1:c.1649A>G
hgvsp: ENSP00000382549.1:p.Asn550Ser
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382563
ensembl transcript: ENST00000399655
gene symbol: CACNA1C
hgvsc: ENST00000399655.1:c.1649A>G
hgvsp: ENSP00000382563.1:p.Asn550Ser
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382557
ensembl transcript: ENST00000399649
gene symbol: CACNA1C
hgvsc: ENST00000399649.1:c.1649A>G
hgvsp: ENSP00000382557.1:p.Asn550Ser
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000266376
ensembl transcript: ENST00000347598
gene symbol: CACNA1C
hgvsc: ENST00000347598.4:c.1649A>G
hgvsp: ENSP00000266376.6:p.Asn550Ser
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 29519
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 186
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 805
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4230
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1133
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9910
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 21
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2817
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1244
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 387
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8826
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 567
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 256
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1448
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4310
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33878
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1083
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1973
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 8.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 522
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10414
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1752
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 343
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.504099796762212e-5
allele num: 28538
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4246
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2458
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.858776443682104e-4
allele num: 3498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9120
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4498
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.375e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

DP
type: SiteQuality
SIO_000300: 8.08955e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.203e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.04e-2

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382563
ensembl transcript: ENST00000399655
gene symbol: CACNA1C
hgvsc: ENST00000399655.1:c.1650C>A
hgvsp: ENSP00000382563.1:p.Asn550Lys
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382557
ensembl transcript: ENST00000399649
gene symbol: CACNA1C
hgvsc: ENST00000399649.1:c.1650C>A
hgvsp: ENSP00000382557.1:p.Asn550Lys
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000336982
ensembl transcript: ENST00000335762
gene symbol: CACNA1C
hgvsc: ENST00000335762.5:c.1725C>A
hgvsp: ENSP00000336982.5:p.Asn575Lys
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000341092
ensembl transcript: ENST00000344100
gene symbol: CACNA1C
hgvsc: ENST00000344100.3:c.1650C>A
hgvsp: ENSP00000341092.3:p.Asn550Lys
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382537
ensembl transcript: ENST00000399629
gene symbol: CACNA1C
hgvsc: ENST00000399629.1:c.1650C>A
hgvsp: ENSP00000382537.1:p.Asn550Lys
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 2824
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1258
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 567
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 186
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4218
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29509
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1130
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8885
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 805
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9854
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 256
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 387
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1949
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1273
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34063
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10661
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 682
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4313
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1340
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1079
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1752
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4254
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.215330084182543e-4
allele num: 4514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2454
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9122
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

QD
type: SiteQuality
SIO_000300: 9.56e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.04e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

DP
type: SiteQuality
SIO_000300: 8.10151e5

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.843e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.83e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.48e-2

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000437936
ensembl transcript: ENST00000480911
gene symbol: CACNA1C
hgvsc: ENST00000480911.1:c.1669+6C>T
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000341092
ensembl transcript: ENST00000344100
gene symbol: CACNA1C
hgvsc: ENST00000344100.3:c.1669+6C>T
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382546
ensembl transcript: ENST00000399637
gene symbol: CACNA1C
hgvsc: ENST00000399637.1:c.1669+6C>T
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000336982
ensembl transcript: ENST00000335762
gene symbol: CACNA1C
hgvsc: ENST00000335762.5:c.1744+6C>T
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 28165
bin: 7.5e0
variant carriers: 4

GenotypeDepth
all individuals: 254
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4158
bin: 2.25e1
variant carriers: 3

GenotypeDepth
all individuals: 563
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7980
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1658
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 186
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 785
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1955
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1065
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 56
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12492
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 379
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 162
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8134
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 5291
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2017
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 782
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2486
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1523
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1756
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1874
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32657
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.974879532348527e-4
allele num: 25318
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3786
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1940
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4048
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8042
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2972
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

DP
type: SiteQuality
SIO_000300: 7.16143e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-2

FS
type: SiteQuality
SIO_000300: 2.567e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.73e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.8e-1

QD
type: SiteQuality
SIO_000300: 1.391e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000437936
ensembl transcript: ENST00000480911
gene symbol: CACNA1C
hgvsc: ENST00000480911.1:c.1669+7G>A
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382512
ensembl transcript: ENST00000399603
gene symbol: CACNA1C
hgvsc: ENST00000399603.1:c.1669+7G>A
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382549
ensembl transcript: ENST00000399641
gene symbol: CACNA1C
hgvsc: ENST00000399641.1:c.1669+7G>A
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382547
ensembl transcript: ENST00000399638
gene symbol: CACNA1C
hgvsc: ENST00000399638.1:c.1669+7G>A
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 56
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 186
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28001
bin: 7.5e0
variant carriers: 2

GenotypeDepth
all individuals: 21
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3764
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1016
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 557
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12734
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1834
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 379
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8455
bin: 2.5e0
variant carriers: 0