12-2788959-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2788959
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2788959
    reference: chr 12
allele count: 1
allele frequency: 4.012519059465533e-5
allele num: 24922
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.5441A>G
  hgvsp: ENSP00000382510.1:p.Asn1814Ser
  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.5465A>G
  hgvsp: ENSP00000382504.1:p.Asn1822Ser
  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.5441A>G
  hgvsp: ENSP00000382542.1:p.Asn1814Ser
  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.5441A>G
  hgvsp: ENSP00000382526.1:p.Asn1814Ser
  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.5498A>G
  hgvsp: ENSP00000385724.3:p.Asn1833Ser
  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.5498A>G
  hgvsp: ENSP00000382530.1:p.Asn1833Ser
  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.5516A>G
  hgvsp: ENSP00000336982.5:p.Asn1839Ser
  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.5441A>G
  hgvsp: ENSP00000382506.1:p.Asn1814Ser
  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.5441A>G
  hgvsp: ENSP00000382563.1:p.Asn1814Ser
  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.5585A>G
  hgvsp: ENSP00000266376.6:p.Asn1862Ser
  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.5441A>G
  hgvsp: ENSP00000329877.7:p.Asn1814Ser
  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.5459A>G
  hgvsp: ENSP00000382557.1:p.Asn1820Ser
  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.5441A>G
  hgvsp: ENSP00000385896.3:p.Asn1814Ser
  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.5501A>G
  hgvsp: ENSP00000382515.1:p.Asn1834Ser
  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.5498A>G
  hgvsp: ENSP00000382546.1:p.Asn1833Ser
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-1896T>C
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.5525A>G
  hgvsp: ENSP00000382547.1:p.Asn1842Ser
  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.5492A>G
  hgvsp: ENSP00000382537.1:p.Asn1831Ser
  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.5441A>G
  hgvsp: ENSP00000382549.1:p.Asn1814Ser
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn1862Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

12-2788962-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2788962
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2788962
    reference: chr 12
allele count: 5
allele frequency: 2.101723413198823e-4
allele num: 23790
alternate allele: C
annotation: 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.5444G>C
  hgvsp: ENSP00000329877.7:p.Arg1815Thr
  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.5444G>C
  hgvsp: ENSP00000385896.3:p.Arg1815Thr
  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.5504G>C
  hgvsp: ENSP00000382515.1:p.Arg1835Thr
  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.5444G>C
  hgvsp: ENSP00000382512.1:p.Arg1815Thr
  variant of: http://identifiers.org/hgnc/1390
annotation: 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.5444G>C
  hgvsp: ENSP00000382549.1:p.Arg1815Thr
  variant of: http://identifiers.org/hgnc/1390
annotation: 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.5501G>C
  hgvsp: ENSP00000385724.3:p.Arg1834Thr
  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.5588G>C
  hgvsp: ENSP00000266376.6:p.Arg1863Thr
  variant of: http://identifiers.org/hgnc/1390
annotation: 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.5567G>C
  hgvsp: ENSP00000341092.3:p.Arg1856Thr
  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.5501G>C
  hgvsp: ENSP00000382546.1:p.Arg1834Thr
  variant of: http://identifiers.org/hgnc/1390
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.5444G>C
  hgvsp: ENSP00000382542.1:p.Arg1815Thr
  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.5462G>C
  hgvsp: ENSP00000382557.1:p.Arg1821Thr
  variant of: http://identifiers.org/hgnc/1390
annotation: 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.5495G>C
  hgvsp: ENSP00000382537.1:p.Arg1832Thr
  variant of: http://identifiers.org/hgnc/1390
annotation: 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.5501G>C
  hgvsp: ENSP00000382530.1:p.Arg1834Thr
  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.5468G>C
  hgvsp: ENSP00000382500.1:p.Arg1823Thr
  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.5528G>C
  hgvsp: ENSP00000382547.1:p.Arg1843Thr
  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.5444G>C
  hgvsp: ENSP00000382563.1:p.Arg1815Thr
  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.5444G>C
  hgvsp: ENSP00000382552.1:p.Arg1815Thr
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg1863Thr
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ

12-2788989-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2788989
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2788989
    reference: chr 12
allele count: 3
allele frequency: 2.454188481675393e-4
allele num: 12224
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.5444+27C>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.5567+27C>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.5501+27C>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.5444+27C>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.5444+27C>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.5468+27C>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.5462+27C>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.5519+27C>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.5495+27C>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.5444+27C>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.5504+27C>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.5588+27C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-1926G>A
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.5444+27C>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.5444+27C>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.5444+27C>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.5501+27C>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.5501+27C>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.5528+27C>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.5444+27C>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.5444+27C>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: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

12-2788990-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2788990
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2788990
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 11564
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.5519+28G>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.5495+28G>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.5504+28G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-1927C>T
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382557
  ensembl transcript: ENST00000399649
  gene symbol: CACNA1C
  hgvsc: ENST00000399649.1:c.5462+28G>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.5501+28G>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.5444+28G>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.5444+28G>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.5444+28G>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.5468+28G>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.5444+28G>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.5501+28G>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.5468+28G>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.5444+28G>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.5528+28G>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.5444+28G>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.5588+28G>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.5444+28G>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.5444+28G>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.5444+28G>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.5567+28G>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: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD

12-2789000-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2789000
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2789000
    reference: chr 12
allele count: 5
allele frequency: 5.14827018121911e-4
allele num: 9712
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.5444+38G>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.5444+38G>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.5468+38G>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.5444+38G>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.5462+38G>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.5501+38G>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.5501+38G>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.5444+38G>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.5444+38G>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.5444+38G>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.5588+38G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-1937C>T
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.5444+38G>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.5501+38G>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.5444+38G>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.5495+38G>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.5528+38G>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.5519+38G>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.5468+38G>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.5444+38G>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.5444+38G>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: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

12-2789003-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2789003
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2789003
    reference: chr 12
allele count: 3
allele frequency: 3.282994090610637e-4
allele num: 9138
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.5444+41C>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.5444+41C>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.5444+41C>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.5462+41C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-1940G>A
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.5567+41C>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.5501+41C>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.5444+41C>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.5501+41C>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.5444+41C>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.5588+41C>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.5444+41C>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.5468+41C>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.5444+41C>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.5468+41C>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.5504+41C>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.5501+41C>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.5519+41C>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.5444+41C>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.5444+41C>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.5444+41C>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: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

12-2789005-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2789005
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2789005
    reference: chr 12
allele count: 2
allele frequency: 2.272727272727273e-4
allele num: 8800
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.5444+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.5528+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.5444+43C>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.5501+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.5468+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.5501+43C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-1942G>A
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.5444+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.5444+43C>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.5444+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.5444+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.5444+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.5501+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.5495+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.5444+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.5444+43C>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.5462+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.5567+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.5519+43C>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.5468+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.5504+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: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/12-2789009-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2789009
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2789009
    reference: chr 12
allele count: 10
allele frequency: 1.178411501296253e-3
allele num: 8486
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.5444+47C>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.5501+47C>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.5444+47C>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.5444+47C>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.5588+47C>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.5504+47C>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.5462+47C>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.5444+47C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-1946G>T
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.5528+47C>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.5468+47C>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.5495+47C>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.5567+47C>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.5468+47C>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.5444+47C>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.5444+47C>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.5444+47C>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.5519+47C>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.5444+47C>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.5501+47C>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.5444+47C>A
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 1
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

12-2789500-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2789500
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2789501
    reference: chr 12
allele count: 1
allele frequency: 1.002004008016032e-4
allele num: 9980
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.5444+539dupT
  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.5588+539dupT
  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.5462+539dupT
  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.5567+539dupT
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-2438dupA
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382530
  ensembl transcript: ENST00000399621
  gene symbol: CACNA1C
  hgvsc: ENST00000399621.1:c.5501+539dupT
  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.5504+539dupT
  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.5444+539dupT
  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.5501+539dupT
  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.5445-28dupT
  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.5528+539dupT
  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.5495+539dupT
  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.5444+539dupT
  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.5519+539dupT
  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.5444+539dupT
  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.5444+539dupT
  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.5468+539dupT
  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.5468+539dupT
  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.5501+539dupT
  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.5444+539dupT
  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.5444+539dupT
  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: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

12-2789502-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2789502
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2789502
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 10132
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382530
  ensembl transcript: ENST00000399621
  gene symbol: CACNA1C
  hgvsc: ENST00000399621.1:c.5501+540C>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-2439G>C
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.5504+540C>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.5444+540C>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.5444+540C>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.5444+540C>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.5588+540C>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.5567+540C>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.5445-27C>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.5468+540C>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.5444+540C>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.5445-27C>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.5444+540C>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.5519+540C>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.5462+540C>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.5444+540C>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.5468+540C>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.5501+540C>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.5444+540C>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.5501+540C>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.5528+540C>G
  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: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum

12-2789555-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2789555
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2789555
    reference: chr 12
allele count: 1
allele frequency: 5.359631257369493e-5
allele num: 18658
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.5504+593G>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-2492C>G
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.5495+593G>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.5444+593G>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.5501+593G>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.5444+593G>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.5501+593G>C
  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.5471G>C
  hgvsp: ENSP00000385896.3:p.Gly1824Ala
  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.5519+593G>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.5444+593G>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.5444+593G>C
  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.5471G>C
  hgvsp: ENSP00000382542.1:p.Gly1824Ala
  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.5444+593G>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.5528+593G>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.5444+593G>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.5501+593G>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.5588+593G>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.5462+593G>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.5567+593G>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.5468+593G>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.5444+593G>C
  variant of: http://identifiers.org/hgnc/1390
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly1824Ala
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/12-2789561-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2789561
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2789561
    reference: chr 12
allele count: 5
allele frequency: 2.568053415511043e-4
allele num: 19470
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.5468+599C>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.5504+599C>A
  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.5477C>A
  hgvsp: ENSP00000382542.1:p.Thr1826Asn
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-2498G>T
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.5588+599C>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.5519+599C>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.5462+599C>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.5528+599C>A
  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.5477C>A
  hgvsp: ENSP00000385896.3:p.Thr1826Asn
  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.5444+599C>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.5444+599C>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.5444+599C>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.5444+599C>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.5444+599C>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.5501+599C>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.5444+599C>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.5444+599C>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.5495+599C>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.5567+599C>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.5501+599C>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.5444+599C>A
  variant of: http://identifiers.org/hgnc/1390
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr1826Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

12-2789571-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2789571
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2789571
    reference: chr 12
allele count: 1
allele frequency: 4.816491667469415e-5
allele num: 20762
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.5444+609C>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.5519+609C>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.5468+609C>T
  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.5487C>T
  hgvsp: ENST00000406454.3:c.5487C>T(p.%3D)
  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.5444+609C>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.5567+609C>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.5528+609C>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.5444+609C>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.5504+609C>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.5495+609C>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.5444+609C>T
  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.5487C>T
  hgvsp: ENST00000399634.1:c.5487C>T(p.%3D)
  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.5444+609C>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.5588+609C>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.5444+609C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-2508G>A
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.5444+609C>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.5501+609C>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.5501+609C>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.5501+609C>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.5468+609C>T
  variant of: http://identifiers.org/hgnc/1390
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro1829Pro
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

12-2789572-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2789572
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2789572
    reference: chr 12
allele count: 13
allele frequency: 6.18576322801675e-4
allele num: 21016
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.5567+610G>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.5444+610G>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.5444+610G>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.5444+610G>A
  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.5488G>A
  hgvsp: ENSP00000385896.3:p.Ala1830Thr
  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.5501+610G>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.5501+610G>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.5444+610G>A
  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.5488G>A
  hgvsp: ENSP00000382542.1:p.Ala1830Thr
  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.5528+610G>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.5504+610G>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.5468+610G>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.5444+610G>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.5519+610G>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.5462+610G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-2509C>T
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.5468+610G>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.5501+610G>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.5588+610G>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.5444+610G>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.5444+610G>A
  variant of: http://identifiers.org/hgnc/1390
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala1830Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

12-2789578-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2789578
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2789578
    reference: chr 12
allele count: 1
allele frequency: 4.681209624566988e-5
allele num: 21362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.5444+616G>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.5468+616G>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.5495+616G>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.5444+616G>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.5504+616G>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.5567+616G>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.5444+616G>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.5444+616G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-2515C>T
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.5501+616G>A
  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.5494G>A
  hgvsp: ENSP00000382542.1:p.Gly1832Ser
  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.5494G>A
  hgvsp: ENSP00000385896.3:p.Gly1832Ser
  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.5528+616G>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.5501+616G>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.5501+616G>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.5444+616G>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.5462+616G>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.5444+616G>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.5444+616G>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.5519+616G>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.5444+616G>A
  variant of: http://identifiers.org/hgnc/1390
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly1832Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

12-2789584-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2789584
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2789584
    reference: chr 12
allele count: 2
allele frequency: 9.211495946941784e-5
allele num: 21712
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.5588+622C>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.5444+622C>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.5444+622C>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.5444+622C>T
  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.5500C>T
  hgvsp: ENSP00000382542.1:p.Arg1834Cys
  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.5501+622C>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.5444+622C>T
  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.5500C>T
  hgvsp: ENSP00000385896.3:p.Arg1834Cys
  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.5495+622C>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.5444+622C>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.5501+622C>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.5444+622C>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.5504+622C>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.5468+622C>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.5468+622C>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.5501+622C>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.5444+622C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-2521G>A
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.5528+622C>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.5444+622C>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.5519+622C>T
  variant of: http://identifiers.org/hgnc/1390
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg1834Cys
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD

12-2789585-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2789585
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2789585
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 21882
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.5444+623G>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.5444+623G>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.5444+623G>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.5444+623G>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.5444+623G>A
  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.5501G>A
  hgvsp: ENSP00000385896.3:p.Arg1834His
  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.5501G>A
  hgvsp: ENSP00000382542.1:p.Arg1834His
  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.5501+623G>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.5495+623G>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.5444+623G>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.5501+623G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-2522C>T
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.5501+623G>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.5444+623G>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.5444+623G>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.5528+623G>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.5588+623G>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.5504+623G>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.5567+623G>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.5462+623G>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.5468+623G>A
  variant of: http://identifiers.org/hgnc/1390
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg1834His
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

12-2789585-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2789585
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2789585
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 21882
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.5462+623G>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.5495+623G>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.5444+623G>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.5501+623G>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-2522C>A
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.5444+623G>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.5567+623G>T
  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.5501G>T
  hgvsp: ENSP00000385896.3:p.Arg1834Leu
  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.5444+623G>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.5444+623G>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.5468+623G>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.5444+623G>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.5444+623G>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.5504+623G>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.5444+623G>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.5444+623G>T
  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.5501G>T
  hgvsp: ENSP00000382542.1:p.Arg1834Leu
  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.5519+623G>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.5501+623G>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.5501+623G>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.5588+623G>T
  variant of: http://identifiers.org/hgnc/1390
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg1834Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP

12-2789586-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2789586
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2789586
    reference: chr 12
allele count: 1
allele frequency: 4.559547692868867e-5
allele num: 21932
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.5462+624C>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.5567+624C>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.5444+624C>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.5444+624C>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.5468+624C>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.5501+624C>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.5444+624C>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.5501+624C>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.5504+624C>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.5444+624C>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.5588+624C>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.5444+624C>T
  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.5502C>T
  hgvsp: ENST00000399634.1:c.5502C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-2523G>A
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.5502C>T
  hgvsp: ENST00000406454.3:c.5502C>T(p.%3D)
  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.5444+624C>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.5468+624C>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.5501+624C>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.5528+624C>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.5519+624C>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.5444+624C>T
  variant of: http://identifiers.org/hgnc/1390
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg1834Arg
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

12-2789587-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2789587
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2789587
    reference: chr 12
allele count: 2
allele frequency: 9.068649678062936e-5
allele num: 22054
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.5588+625A>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.5444+625A>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.5495+625A>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.5501+625A>G
  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.5503A>G
  hgvsp: ENSP00000382542.1:p.Arg1835Gly
  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.5444+625A>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.5444+625A>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.5519+625A>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.5444+625A>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.5468+625A>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.5501+625A>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.5468+625A>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.5444+625A>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.5444+625A>G
  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.5503A>G
  hgvsp: ENSP00000385896.3:p.Arg1835Gly
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-2524T>C
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.5444+625A>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.5528+625A>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.5501+625A>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.5462+625A>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.5567+625A>G
  variant of: http://identifiers.org/hgnc/1390
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg1835Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

12-2789587-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2789587
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2789587
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 22054
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.5567+625A>T
  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.5503A>T
  hgvsp: ENSP00000385896.3:p.Arg1835Trp
  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.5444+625A>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.5468+625A>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.5444+625A>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.5501+625A>T
  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.5503A>T
  hgvsp: ENSP00000382542.1:p.Arg1835Trp
  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.5444+625A>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.5444+625A>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.5444+625A>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.5468+625A>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.5501+625A>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.5504+625A>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.5444+625A>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.5588+625A>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.5519+625A>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.5444+625A>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.5444+625A>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.5462+625A>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.5528+625A>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.5495+625A>T
  variant of: http://identifiers.org/hgnc/1390
canonical: false
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg1835Trp
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

12-2789606-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2789606
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2789606
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 22502
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.5444+644A>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.5468+644A>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.5501+644A>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.5444+644A>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.5444+644A>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.5468+644A>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.5528+644A>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.5519+644A>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.5504+644A>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.5444+644A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-2543T>C
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.5495+644A>G
  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.5522A>G
  hgvsp: ENSP00000382542.1:p.His1841Arg
  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.5501+644A>G
  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.5522A>G
  hgvsp: ENSP00000385896.3:p.His1841Arg
  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.5501+644A>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.5588+644A>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.5444+644A>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.5462+644A>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.5567+644A>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.5444+644A>G
  variant of: http://identifiers.org/hgnc/1390
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His1841Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

12-2789609-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2789609
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2789609
    reference: chr 12
allele count: 2
allele frequency: 8.85112409275978e-5
allele num: 22596
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.5588+647A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-2546T>C
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.5525A>G
  hgvsp: ENSP00000382542.1:p.Gln1842Arg
  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.5468+647A>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.5444+647A>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.5444+647A>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.5504+647A>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.5444+647A>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.5444+647A>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.5501+647A>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.5444+647A>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.5501+647A>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.5444+647A>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.5567+647A>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.5462+647A>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.5501+647A>G
  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.5525A>G
  hgvsp: ENSP00000385896.3:p.Gln1842Arg
  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.5444+647A>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.5468+647A>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.5444+647A>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.5528+647A>G
  variant of: http://identifiers.org/hgnc/1390
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln1842Arg
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-2789609-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2789609
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2789609
    reference: chr 12
allele count: 1
allele frequency: 4.42556204637989e-5
allele num: 22596
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.5444+647A>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.5444+647A>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.5495+647A>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.5444+647A>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.5528+647A>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.5501+647A>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.5519+647A>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.5468+647A>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.5444+647A>T
  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.5525A>T
  hgvsp: ENSP00000385896.3:p.Gln1842Leu
  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.5444+647A>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.5501+647A>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.5567+647A>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.5588+647A>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-2546T>A
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.5525A>T
  hgvsp: ENSP00000382542.1:p.Gln1842Leu
  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.5504+647A>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.5444+647A>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.5462+647A>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.5444+647A>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.5501+647A>T
  variant of: http://identifiers.org/hgnc/1390
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln1842Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

12-2789626-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2789626
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2789626
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 23142
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.5444+664C>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.5528+664C>T
  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.5542C>T
  hgvsp: ENST00000399634.1:c.5542C>T(p.%3D)
  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.5444+664C>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.5444+664C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-2563G>A
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.5542C>T
  hgvsp: ENST00000406454.3:c.5542C>T(p.%3D)
  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.5444+664C>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.5468+664C>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.5501+664C>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.5495+664C>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.5519+664C>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.5444+664C>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.5588+664C>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.5468+664C>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.5501+664C>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.5567+664C>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.5501+664C>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.5444+664C>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.5444+664C>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.5444+664C>T
  variant of: http://identifiers.org/hgnc/1390
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu1848Leu
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/12-2789630-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2789630
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2789630
    reference: chr 12
allele count: 1
allele frequency: 4.274965800273598e-5
allele num: 23392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  hgvsc: ENST00000399603.1:c.5444+668C>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.5495+668C>A
  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.5546C>A
  hgvsp: ENSP00000382542.1:p.Ala1849Glu
  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.5444+668C>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.5588+668C>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.5567+668C>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.5444+668C>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.5519+668C>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.5444+668C>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.5504+668C>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.5444+668C>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-2567G>T
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.5501+668C>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.5444+668C>A
  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.5546C>A
  hgvsp: ENSP00000385896.3:p.Ala1849Glu
  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.5528+668C>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.5501+668C>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.5444+668C>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.5468+668C>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.5501+668C>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.5468+668C>A
  variant of: http://identifiers.org/hgnc/1390
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala1849Glu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD

12-2789631-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2789631
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2789631
    reference: chr 12
allele count: 2
allele frequency: 8.49689863199932e-5
allele num: 23538
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.5567+669G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-2568C>T
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.5468+669G>A
  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.5547G>A
  hgvsp: ENST00000406454.3:c.5547G>A(p.%3D)
  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.5519+669G>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.5501+669G>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.5504+669G>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.5444+669G>A
  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.5547G>A
  hgvsp: ENST00000399634.1:c.5547G>A(p.%3D)
  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.5444+669G>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.5588+669G>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.5501+669G>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.5501+669G>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.5444+669G>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.5444+669G>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.5495+669G>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.5444+669G>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.5444+669G>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.5468+669G>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.5462+669G>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.5528+669G>A
  variant of: http://identifiers.org/hgnc/1390
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala1849Ala
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

12-2789639-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2789639
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2789639
    reference: chr 12
allele count: 1
allele frequency: 4.139758238118894e-5
allele num: 24156
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.5444+677G>C
  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.5555G>C
  hgvsp: ENSP00000385896.3:p.Arg1852Thr
  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.5444+677G>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.5519+677G>C
  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.5555G>C
  hgvsp: ENSP00000382542.1:p.Arg1852Thr
  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.5501+677G>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.5444+677G>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.5444+677G>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.5468+677G>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.5501+677G>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.5501+677G>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-2576C>G
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.5468+677G>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.5495+677G>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.5504+677G>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.5444+677G>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.5528+677G>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.5444+677G>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.5444+677G>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.5567+677G>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.5462+677G>C
  variant of: http://identifiers.org/hgnc/1390
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg1852Thr
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ

12-2789651-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2789651
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2789651
    reference: chr 12
allele count: 1
allele frequency: 4.013485310643763e-5
allele num: 24916
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382506
  ensembl transcript: ENST00000399597
  gene symbol: CACNA1C
  hgvsc: ENST00000399597.1:c.5444+689C>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.5462+689C>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.5567+689C>G
  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.5567C>G
  hgvsp: ENSP00000385896.3:p.Pro1856Arg
  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.5444+689C>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.5444+689C>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.5468+689C>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.5501+689C>G
  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.5567C>G
  hgvsp: ENSP00000382542.1:p.Pro1856Arg
  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.5444+689C>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.5588+689C>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.5444+689C>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.5495+689C>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.5444+689C>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-2588G>C
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.5519+689C>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.5468+689C>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.5444+689C>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.5528+689C>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.5501+689C>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.5504+689C>G
  variant of: http://identifiers.org/hgnc/1390
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro1856Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

12-2789659-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2789659
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2789659
    reference: chr 12
allele count: 1
allele frequency: 3.962279102940011e-5
allele num: 25238
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.5444+697G>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.5528+697G>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.5567+697G>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.5588+697G>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.5519+697G>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.5501+697G>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.5501+697G>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.5468+697G>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.5504+697G>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.5444+697G>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.5444+697G>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.5444+697G>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.5444+697G>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-2596C>A
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.5575G>T
  hgvsp: ENSP00000385896.3:p.Val1859Leu
  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.5575G>T
  hgvsp: ENSP00000382542.1:p.Val1859Leu
  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.5444+697G>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.5444+697G>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.5468+697G>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.5444+697G>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.5462+697G>T
  variant of: http://identifiers.org/hgnc/1390
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val1859Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

12-2789665-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2789665
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2789665
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 25456
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.5519+703G>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.5588+703G>A
  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.5581G>A
  hgvsp: ENSP00000385896.3:p.Gly1861Ser
  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.5444+703G>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.5444+703G>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.5501+703G>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.5528+703G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-2602C>T
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.5581G>A
  hgvsp: ENSP00000382542.1:p.Gly1861Ser
  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.5444+703G>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.5444+703G>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.5444+703G>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.5444+703G>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.5567+703G>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.5468+703G>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.5501+703G>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.5495+703G>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.5501+703G>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.5462+703G>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.5444+703G>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.5444+703G>A
  variant of: http://identifiers.org/hgnc/1390
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly1861Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

12-2789667-CCACGCTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2789667
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2789660
    reference: chr 12
allele count: 2
allele frequency: 7.843137254901961e-5
allele num: 25500
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382512
  ensembl transcript: ENST00000399603
  gene symbol: CACNA1C
  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
  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
  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
  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
  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
  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
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.5587_5593delGCTTCAC
  hgvsp: ENSP00000382542.1:p.Ala1863CysfsTer7
  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
  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
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.5587_5593delGCTTCAC
  hgvsp: ENSP00000385896.3:p.Ala1863CysfsTer7
  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
  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
  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
  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
  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
  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
  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
  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
  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
  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
  variant of: http://identifiers.org/hgnc/1390
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala1863CysfsTer7
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: CCACGCTT
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

12-2789679-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2789679
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2789679
    reference: chr 12
allele count: 55
allele frequency: 2.123388155354799e-3
allele num: 25902
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.5444+717G>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.5444+717G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-2616C>T
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.5504+717G>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.5444+717G>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.5588+717G>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.5444+717G>A
  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.5595G>A
  hgvsp: ENST00000399634.1:c.5595G>A(p.%3D)
  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.5519+717G>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.5444+717G>A
  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.5595G>A
  hgvsp: ENST00000406454.3:c.5595G>A(p.%3D)
  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.5444+717G>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.5501+717G>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.5501+717G>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.5444+717G>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.5468+717G>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.5528+717G>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.5567+717G>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.5468+717G>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.5495+717G>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.5444+717G>A
  variant of: http://identifiers.org/hgnc/1390
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu1865Leu
num of homozygotes: 2
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-2789681-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2789681
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2789681
    reference: chr 12
allele count: 12
allele frequency: 4.606879606879607e-4
allele num: 26048
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.5444+719G>A
  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.5597G>A
  hgvsp: ENSP00000382542.1:p.Cys1866Tyr
  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.5444+719G>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.5588+719G>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.5501+719G>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.5504+719G>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.5444+719G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-2618C>T
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.5444+719G>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.5444+719G>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.5462+719G>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.5501+719G>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.5444+719G>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.5444+719G>A
  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.5597G>A
  hgvsp: ENSP00000385896.3:p.Cys1866Tyr
  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.5495+719G>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.5528+719G>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.5567+719G>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.5468+719G>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.5519+719G>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.5444+719G>A
  variant of: http://identifiers.org/hgnc/1390
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Cys1866Tyr
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

12-2789685-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2789685
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2789685
    reference: chr 12
allele count: 6
allele frequency: 2.296387017758726e-4
allele num: 26128
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.5501+723C>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.5444+723C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-2622G>A
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.5444+723C>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.5444+723C>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.5444+723C>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.5444+723C>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.5567+723C>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.5444+723C>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.5495+723C>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.5501+723C>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.5528+723C>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.5588+723C>T
  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.5601C>T
  hgvsp: ENST00000406454.3:c.5601C>T(p.%3D)
  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.5519+723C>T
  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.5601C>T
  hgvsp: ENST00000399634.1:c.5601C>T(p.%3D)
  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.5501+723C>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.5444+723C>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.5444+723C>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.5468+723C>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.5468+723C>T
  variant of: http://identifiers.org/hgnc/1390
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Cys1867Cys
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP

12-2789697-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2789697
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2789697
    reference: chr 12
allele count: 1
allele frequency: 3.827604684988135e-5
allele num: 26126
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.5444+735A>G
  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.5613A>G
  hgvsp: ENST00000406454.3:c.5613A>G(p.%3D)
  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.5495+735A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-2634T>C
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.5588+735A>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.5468+735A>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.5567+735A>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.5501+735A>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.5504+735A>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.5528+735A>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.5501+735A>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.5444+735A>G
  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.5613A>G
  hgvsp: ENST00000399634.1:c.5613A>G(p.%3D)
  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.5444+735A>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.5444+735A>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.5462+735A>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.5468+735A>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.5444+735A>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.5444+735A>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.5519+735A>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.5444+735A>G
  variant of: http://identifiers.org/hgnc/1390
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val1871Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

12-2789731-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2789731
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2789731
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 23586
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.5444+769C>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.5528+769C>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-2668G>C
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000341092
  ensembl transcript: ENST00000344100
  gene symbol: CACNA1C
  hgvsc: ENST00000344100.3:c.5567+769C>G
  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.5647C>G
  hgvsp: ENSP00000385896.3:p.Gln1883Glu
  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.5501+769C>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.5504+769C>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.5468+769C>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.5444+769C>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.5495+769C>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.5444+769C>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.5444+769C>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.5444+769C>G
  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.5647C>G
  hgvsp: ENSP00000382542.1:p.Gln1883Glu
  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.5501+769C>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.5444+769C>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.5462+769C>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.5444+769C>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.5501+769C>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.5444+769C>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.5519+769C>G
  variant of: http://identifiers.org/hgnc/1390
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln1883Glu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum

12-2789736-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2789736
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2789736
    reference: chr 12
allele count: 1
allele frequency: 4.315553253927153e-5
allele num: 23172
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385896
  ensembl transcript: ENST00000406454
  gene symbol: CACNA1C
  hgvsc: ENST00000406454.3:c.5652T>A
  hgvsp: ENSP00000385896.3:p.His1884Gln
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-2673A>T
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.5501+774T>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.5444+774T>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.5588+774T>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.5444+774T>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.5462+774T>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.5444+774T>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.5519+774T>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.5444+774T>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.5501+774T>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.5468+774T>A
  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.5652T>A
  hgvsp: ENSP00000382542.1:p.His1884Gln
  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.5444+774T>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.5444+774T>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.5444+774T>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.5528+774T>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.5504+774T>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.5567+774T>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.5468+774T>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.5501+774T>A
  variant of: http://identifiers.org/hgnc/1390
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His1884Gln
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

12-2789736-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2789736
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2789736
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 23172
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.5501+774T>C
  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.5652T>C
  hgvsp: ENST00000399634.1:c.5652T>C(p.%3D)
  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.5588+774T>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.5495+774T>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.5444+774T>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.5519+774T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-2673A>G
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.5504+774T>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.5444+774T>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.5444+774T>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.5567+774T>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.5528+774T>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.5444+774T>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.5444+774T>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.5501+774T>C
  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.5652T>C
  hgvsp: ENST00000406454.3:c.5652T>C(p.%3D)
  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.5501+774T>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.5444+774T>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.5468+774T>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.5468+774T>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.5444+774T>C
  variant of: http://identifiers.org/hgnc/1390
canonical: false
consequence: synonymous
filter: AC_Adj0
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His1884His
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/12-2789777-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2789777
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2789777
    reference: chr 12
allele count: 1
allele frequency: 5.809225049378413e-5
allele num: 17214
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.5519+815A>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.5495+815A>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.5444+815A>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.5501+815A>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.5567+815A>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.5468+815A>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.5657+36A>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.5444+815A>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.5588+815A>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.5444+815A>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.5657+36A>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.5444+815A>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.5504+815A>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.5468+815A>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.5501+815A>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.5462+815A>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.5444+815A>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.5444+815A>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.5444+815A>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-2714T>G
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.5528+815A>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: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

12-2789778-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2789778
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2789778
    reference: chr 12
allele count: 1
allele frequency: 5.868544600938967e-5
allele num: 17040
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.5468+816T>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.5501+816T>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.5528+816T>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.5462+816T>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.5501+816T>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-2715A>C
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.5519+816T>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.5444+816T>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.5444+816T>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.5504+816T>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.5588+816T>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.5657+37T>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.5444+816T>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.5657+37T>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.5468+816T>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.5444+816T>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.5495+816T>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.5501+816T>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.5444+816T>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.5444+816T>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.5567+816T>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: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

12-2789787-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2789787
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2789787
    reference: chr 12
allele count: 1320
allele frequency: 8.209976365219554e-2
allele num: 16078
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.5501+825A>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.5444+825A>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.5444+825A>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.5588+825A>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.5444+825A>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.5519+825A>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.5444+825A>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.5504+825A>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.5468+825A>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.5462+825A>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.5501+825A>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.5567+825A>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.5657+46A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-2724T>C
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.5657+46A>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.5495+825A>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.5444+825A>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.5444+825A>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.5444+825A>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.5444+825A>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.5528+825A>G
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 118
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

12-2789789-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2789789
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2789789
    reference: chr 12
allele count: 1288
allele frequency: 8.349539738104499e-2
allele num: 15426
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382510
  ensembl transcript: ENST00000399601
  gene symbol: CACNA1C
  hgvsc: ENST00000399601.1:c.5444+827C>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.5462+827C>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.5519+827C>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.5501+827C>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.5444+827C>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.5468+827C>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.5657+48C>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.5444+827C>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-2726G>C
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.5468+827C>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.5657+48C>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.5567+827C>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.5444+827C>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.5501+827C>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.5444+827C>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.5501+827C>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.5495+827C>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.5528+827C>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.5504+827C>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.5444+827C>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.5444+827C>G
  variant of: http://identifiers.org/hgnc/1390
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 114
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

12-2791066-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2791066
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2791066
    reference: chr 12
allele count: 1
allele frequency: 8.365260745177427e-6
allele num: 119542
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.5463-650G>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.5445-650G>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.5469-650G>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.5445-650G>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.5445-50G>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.5445-650G>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.5445-650G>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.5658-650G>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.5505-650G>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.5502-650G>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.5445-650G>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.5529-650G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-4003C>T
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.5589-650G>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.5502-650G>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.5445-650G>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.5469-650G>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.5520-650G>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.5496-650G>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.5502-650G>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.5568-650G>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: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: FS

12-2791067-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2791067
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2791067
    reference: chr 12
allele count: 1
allele frequency: 8.360225391676559e-6
allele num: 119614
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.5469-649G>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.5502-649G>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.5658-649G>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.5445-649G>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.5445-49G>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.5496-649G>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.5502-649G>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.5445-649G>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.5445-649G>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.5445-649G>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.5469-649G>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.5520-649G>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.5589-649G>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.5502-649G>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.5463-649G>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.5445-49G>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.5445-649G>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.5505-649G>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.5658-649G>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.5445-649G>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.5529-649G>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: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

12-2791067-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2791067
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2791067
    reference: chr 12
allele count: 1
allele frequency: 8.360225391676559e-6
allele num: 119614
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.5658-649G>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.5445-649G>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-4004C>A
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.5445-649G>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.5589-649G>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.5502-649G>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.5529-649G>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.5568-649G>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.5658-649G>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.5463-649G>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.5502-649G>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.5502-649G>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.5445-49G>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.5469-649G>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.5445-49G>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.5445-649G>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.5445-649G>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.5496-649G>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.5445-649G>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.5505-649G>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.5469-649G>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: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD

12-2791069-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2791069
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2791069
    reference: chr 12
allele count: 1
allele frequency: 8.35952651641811e-6
allele num: 119624
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.5445-47A>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.5445-647A>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.5445-647A>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.5658-647A>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.5502-647A>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.5502-647A>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.5469-647A>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.5496-647A>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.5505-647A>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.5445-47A>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.5445-647A>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.5463-647A>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.5502-647A>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.5658-647A>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.5445-647A>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.5529-647A>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.5469-647A>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.5445-647A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-4006T>C
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000266376
  ensembl transcript: ENST00000347598
  gene symbol: CACNA1C
  hgvsc: ENST00000347598.4:c.5589-647A>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.5445-647A>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: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

12-2791078-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2791078
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2791078
    reference: chr 12
allele count: 4
allele frequency: 3.341408403642135e-5
allele num: 119710
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382547
  ensembl transcript: ENST00000399638
  gene symbol: CACNA1C
  hgvsc: ENST00000399638.1:c.5529-638G>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.5658-638G>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.5463-638G>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.5445-638G>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.5568-638G>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.5469-638G>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.5496-638G>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.5445-38G>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.5505-638G>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.5469-638G>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.5589-638G>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.5445-638G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-4015C>T
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000385724
  ensembl transcript: ENST00000402845
  gene symbol: CACNA1C
  hgvsc: ENST00000402845.3:c.5502-638G>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.5502-638G>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.5445-638G>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.5445-38G>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.5445-638G>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.5520-638G>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.5658-638G>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.5445-638G>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: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

12-2791083-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2791083
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2791083
    reference: chr 12
allele count: 1
allele frequency: 8.344737808338063e-6
allele num: 119836
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000336982
  ensembl transcript: ENST00000335762
  gene symbol: CACNA1C
  hgvsc: ENST00000335762.5:c.5520-633A>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.5502-633A>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.5445-33A>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.5469-633A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-4020T>C
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.5445-633A>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.5445-633A>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.5502-633A>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.5529-633A>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.5469-633A>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.5658-633A>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.5445-633A>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.5445-33A>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.5463-633A>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.5496-633A>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.5502-633A>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.5589-633A>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.5445-633A>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.5445-633A>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.5568-633A>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.5445-633A>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: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

12-2791084-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2791084
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2791084
    reference: chr 12
allele count: 1
allele frequency: 8.343623802689983e-6
allele num: 119852
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.5502-632G>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.5496-632G>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.5529-632G>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.5658-632G>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.5445-632G>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.5445-632G>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.5463-632G>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.5445-632G>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.5658-632G>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.5502-632G>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.5502-632G>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.5589-632G>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.5445-32G>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.5469-632G>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.5568-632G>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.5445-32G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-4021C>T
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382549
  ensembl transcript: ENST00000399641
  gene symbol: CACNA1C
  hgvsc: ENST00000399641.1:c.5445-632G>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.5445-632G>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.5505-632G>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.5469-632G>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: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

12-2791094-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2791094
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2791094
    reference: chr 12
allele count: 1
allele frequency: 8.333055564814507e-6
allele num: 120004
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382506
  ensembl transcript: ENST00000399597
  gene symbol: CACNA1C
  hgvsc: ENST00000399597.1:c.5445-622T>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.5505-622T>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.5496-622T>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.5589-622T>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.5658-622T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-4031A>G
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382504
  ensembl transcript: ENST00000399595
  gene symbol: CACNA1C
  hgvsc: ENST00000399595.1:c.5469-622T>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.5469-622T>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.5445-22T>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.5463-622T>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.5658-622T>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.5445-622T>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.5502-622T>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.5520-622T>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.5568-622T>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.5529-622T>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.5502-622T>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.5445-622T>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.5445-622T>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.5502-622T>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.5445-622T>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: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

12-2791103-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2791103
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2791103
    reference: chr 12
allele count: 2
allele frequency: 1.665417603464068e-5
allele num: 120090
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.5469-613C>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.5496-613C>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.5445-613C>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.5529-613C>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.5658-613C>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.5469-613C>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.5445-13C>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.5658-613C>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.5568-613C>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.5502-613C>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.5445-613C>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.5445-613C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-4040G>A
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.5445-13C>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.5445-613C>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.5589-613C>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.5463-613C>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.5445-613C>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.5502-613C>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.5520-613C>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.5505-613C>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: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

12-2791105-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2791105
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2791105
    reference: chr 12
allele count: 3
allele frequency: 2.497752023179139e-5
allele num: 120108
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382500
  ensembl transcript: ENST00000399591
  gene symbol: CACNA1C
  hgvsc: ENST00000399591.1:c.5469-611T>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.5469-611T>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.5496-611T>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.5502-611T>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.5445-11T>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.5589-611T>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.5502-611T>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.5445-611T>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.5529-611T>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.5463-611T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-4042A>G
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382542
  ensembl transcript: ENST00000399634
  gene symbol: CACNA1C
  hgvsc: ENST00000399634.1:c.5658-611T>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.5502-611T>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.5658-611T>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.5445-611T>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.5445-11T>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.5520-611T>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.5445-611T>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.5445-611T>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.5505-611T>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.5445-611T>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: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum

12-2791115-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2791115
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2791115
    reference: chr 12
allele count: 4
allele frequency: 3.328562393902073e-5
allele num: 120172
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382563
  ensembl transcript: ENST00000399655
  gene symbol: CACNA1C
  hgvsc: ENST00000399655.1:c.5445-601G>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.5568-601G>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.5445-601G>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.5445-601G>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.5445-601G>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.5502-601G>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.5502-601G>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.5502-601G>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.5658-601G>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.5658-601G>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.5529-601G>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.5463-601G>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.5445-601G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.5445-1G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.5445-1G>A
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-4052C>T
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382515
  ensembl transcript: ENST00000399606
  gene symbol: CACNA1C
  hgvsc: ENST00000399606.1:c.5505-601G>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.5469-601G>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.5445-601G>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.5496-601G>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.5589-601G>A
  variant of: http://identifiers.org/hgnc/1390
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.5445-1G>A
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

12-2791119-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2791119
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2791119
    reference: chr 12
allele count: 3
allele frequency: 2.496214075319099e-5
allele num: 120182
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382530
  ensembl transcript: ENST00000399621
  gene symbol: CACNA1C
  hgvsc: ENST00000399621.1:c.5502-597A>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.5568-597A>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.5445-597A>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.5502-597A>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.5445-597A>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.5445-597A>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.5505-597A>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.5469-597A>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.5589-597A>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.5658-597A>G
  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.5448A>G
  hgvsp: ENST00000327702.7:c.5448A>G(p.%3D)
  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.5502-597A>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.5520-597A>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.5445-597A>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.5445-597A>G
  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.5448A>G
  hgvsp: ENST00000399617.1:c.5448A>G(p.%3D)
  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.5496-597A>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.5658-597A>G
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-4056T>C
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382552
  ensembl transcript: ENST00000399644
  gene symbol: CACNA1C
  hgvsc: ENST00000399644.1:c.5445-597A>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.5529-597A>G
  variant of: http://identifiers.org/hgnc/1390
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu1816Glu
num of homozygotes: 1
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

12-2791125-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2791125
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2791125
    reference: chr 12
allele count: 2
allele frequency: 1.663838141825563e-5
allele num: 120204
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382526
  ensembl transcript: ENST00000399617
  gene symbol: CACNA1C
  hgvsc: ENST00000399617.1:c.5454C>T
  hgvsp: ENST00000399617.1:c.5454C>T(p.%3D)
  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.5658-591C>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.5658-591C>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.5445-591C>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.5505-591C>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.5463-591C>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.5502-591C>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.5445-591C>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.5445-591C>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.5445-591C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-4062G>A
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.5454C>T
  hgvsp: ENST00000327702.7:c.5454C>T(p.%3D)
  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.5445-591C>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.5520-591C>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.5529-591C>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.5496-591C>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.5589-591C>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.5469-591C>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.5445-591C>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.5502-591C>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.5568-591C>T
  variant of: http://identifiers.org/hgnc/1390
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His1818His
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

12-2791127-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2791127
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2791127
    reference: chr 12
allele count: 2
allele frequency: 1.663755095249979e-5
allele num: 120210
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000329877
  ensembl transcript: ENST00000327702
  gene symbol: CACNA1C
  hgvsc: ENST00000327702.7:c.5456T>C
  hgvsp: ENSP00000329877.7:p.Val1819Ala
  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.5502-589T>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.5589-589T>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.5445-589T>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.5445-589T>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.5658-589T>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.5445-589T>C
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-4064A>G
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382546
  ensembl transcript: ENST00000399637
  gene symbol: CACNA1C
  hgvsc: ENST00000399637.1:c.5502-589T>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.5445-589T>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.5496-589T>C
  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.5456T>C
  hgvsp: ENSP00000382526.1:p.Val1819Ala
  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.5505-589T>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.5658-589T>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.5502-589T>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.5445-589T>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.5469-589T>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.5520-589T>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.5529-589T>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.5568-589T>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.5463-589T>C
  variant of: http://identifiers.org/hgnc/1390
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val1819Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff

12-2791130-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2791130
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2791130
    reference: chr 12
allele count: 92814
allele frequency: 7.721759097489143e-1
allele num: 120198
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.5520-586C>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.5469-586C>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.5658-586C>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.5529-586C>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.5568-586C>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.5445-586C>T
  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.5459C>T
  hgvsp: ENSP00000382526.1:p.Pro1820Leu
  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.5658-586C>T
  variant of: http://identifiers.org/hgnc/1390
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246627
  ensembl transcript: ENST00000501371
  gene symbol: CACNA1C-AS1
  hgvsc: ENST00000501371.1:n.295-4067G>A
  variant of: http://identifiers.org/hgnc/40119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151067
  ensembl protein: ENSP00000382537
  ensembl transcript: ENST00000399629
  gene symbol: CACNA1C
  hgvsc: ENST00000399629.1:c.5496-586C>T
  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.5459C>T
  hgvsp: ENSP00000329877.7:p.Pro1820Leu
  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.5589-586C>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.5502-586C>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.5463-586C>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.5445-586C>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.5445-586C>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.5445-586C>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.5469-586C>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.5502-586C>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.5502-586C>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.5445-586C>T
  variant of: http://identifiers.org/hgnc/1390
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro1820Leu
num of homozygotes: 36572
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

12-2791131-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2791131
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 2791131
    reference: chr 12
allele count: 206
allele frequency: 1.712471112441186e-3
allele num: 120294
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.5589-585G>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.5469-585G>A
  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.5460G>A
  hgvsp: ENST00000327702.7:c.5460G>A(p.%3D)
  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.5529-585G>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.5502-585G>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.5658-585G>A
  variant of: http://identifiers.org/hgnc/1390
canonical: false
consequence: synonymous
filter: PASS
hgvs: p.Pro1820Pro
num of homozygotes: 2
reference allele: G

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000341092
ensembl transcript: ENST00000344100
gene symbol: CACNA1C
hgvsc: ENST00000344100.3:c.5564A>G
hgvsp: ENSP00000341092.3:p.Asn1855Ser
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382552
ensembl transcript: ENST00000399644
gene symbol: CACNA1C
hgvsc: ENST00000399644.1:c.5441A>G
hgvsp: ENSP00000382552.1:p.Asn1814Ser
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.5441A>G
hgvsp: ENSP00000382512.1:p.Asn1814Ser
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.5465A>G
hgvsp: ENSP00000382500.1:p.Asn1822Ser
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 19867
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1520
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7817
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 471
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 796
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25945
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1609
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2631
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1106
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2364
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 757
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1152
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1660
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 35
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26043
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 123
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20935
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 92
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1100
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1036
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13390
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 920
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2384
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.711156741957563e-4
allele num: 5844
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.92e0

QD
type: SiteQuality
SIO_000300: 1.522e1

VQSLOD
type: SiteQuality
SIO_000300: -1.502e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.98e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

DP
type: SiteQuality
SIO_000300: 4.39341e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.16e0

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.5519G>C
hgvsp: ENSP00000336982.5:p.Arg1840Thr
variant of: http://identifiers.org/hgnc/1390

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.5468G>C
hgvsp: ENSP00000382504.1:p.Arg1823Thr
variant of: http://identifiers.org/hgnc/1390

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.5444G>C
hgvsp: ENSP00000382526.1:p.Arg1815Thr
variant of: http://identifiers.org/hgnc/1390

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.5444G>C
hgvsp: ENSP00000382510.1:p.Arg1815Thr
variant of: http://identifiers.org/hgnc/1390

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.5444G>C
hgvsp: ENSP00000382506.1:p.Arg1815Thr
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000246627
ensembl transcript: ENST00000501371
gene symbol: CACNA1C-AS1
hgvsc: ENST00000501371.1:n.295-1899C>G
variant of: http://identifiers.org/hgnc/40119

GenotypeDepth
all individuals: 794
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 442
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19017
bin: 7.5e0
variant carriers: 13

GenotypeDepth
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27056
bin: 2.5e0
variant carriers: 3

GenotypeDepth
all individuals: 42
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 171
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1354
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1439
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7589
bin: 1.25e1
variant carriers: 4

GenotypeDepth
all individuals: 28
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 45
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 137
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20277
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27148
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 2387
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1691
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 37
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1129
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 359
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1922
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 739
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1147
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 75
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 407
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 92
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 972
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 2.304147465437788e-3
allele num: 868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.560792882784455e-4
allele num: 12814
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1030
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 4.273504273504274e-3
allele num: 234
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.495e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.19e-2

FS
type: SiteQuality
SIO_000300: 5.241e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.95e-1

DP
type: SiteQuality
SIO_000300: 4.24153e5

QD
type: SiteQuality
SIO_000300: 1.233e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382563
ensembl transcript: ENST00000399655
gene symbol: CACNA1C
hgvsc: ENST00000399655.1:c.5444+27C>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.5468+27C>T
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 3717
bin: 1.25e1
variant carriers: 3

GenotypeDepth
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11514
bin: 7.5e0
variant carriers: 2

GenotypeDepth
all individuals: 233
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 709
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 534
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35694
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 695
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 15
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 625
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 205
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8517
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 79
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3640
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1516
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32886
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 40
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3223
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 961
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.174628034455756e-3
allele num: 2554
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6688
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1600
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.92304e5

BaseQRankSum
type: SiteQuality
SIO_000300: 6.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.240000000000001e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.754e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.11e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382542
ensembl transcript: ENST00000399634
gene symbol: CACNA1C
hgvsc: ENST00000399634.1:c.5444+28G>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.5501+28G>A
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 737
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3377
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 500
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 225
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 645
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11270
bin: 7.5e0
variant carriers: 3

GenotypeDepth
all individuals: 35786
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 15
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4447
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3498
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1899
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7295
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32131
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 829
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 115
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 8.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2292
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6386
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

DP
type: SiteQuality
SIO_000300: 2.83149e5

VQSLOD
type: SiteQuality
SIO_000300: -2.405e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.42e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 5.38e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382515
ensembl transcript: ENST00000399606
gene symbol: CACNA1C
hgvsc: ENST00000399606.1:c.5504+38G>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.5567+38G>A
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 16
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 816
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2516
bin: 1.25e1
variant carriers: 4

GenotypeDepth
all individuals: 16
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 17
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 434
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10816
bin: 7.5e0
variant carriers: 4

GenotypeDepth
all individuals: 35899
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 12
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 550
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 198
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2392
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5132
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 714
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 356
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6599
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29840
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 4211
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 640
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 356
bin: 9.75e1
variant carriers: 4

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 110
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 9.018759018759019e-4
allele num: 5544
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1422
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

QD
type: SiteQuality
SIO_000300: 1.124e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.81e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -8.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.196e0

DP
type: SiteQuality
SIO_000300: 2.60624e5

MQRankSum
type: SiteQuality
SIO_000300: 7.17e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.898e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382537
ensembl transcript: ENST00000399629
gene symbol: CACNA1C
hgvsc: ENST00000399629.1:c.5495+41C>T
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.5528+41C>T
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 15
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 379
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35753
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 845
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 29
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2233
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 122
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10868
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 559
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 12
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 195
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2963
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 32
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4221
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4437
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28066
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8109
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.617977528089888e-4
allele num: 5340
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 506
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1382
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 98
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1314
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.29e-1

DP
type: SiteQuality
SIO_000300: 2.54364e5

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.77e-1

QD
type: SiteQuality
SIO_000300: 1.446e1

FS
type: SiteQuality
SIO_000300: 6.820000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.04e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.888e0

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000266376
ensembl transcript: ENST00000347598
gene symbol: CACNA1C
hgvsc: ENST00000347598.4:c.5588+43C>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.5444+43C>T
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 121
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 35802
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2113
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 833
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 191
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 584
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10877
bin: 7.5e0
variant carriers: 2

GenotypeDepth
all individuals: 15
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3928
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 609
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 71
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8583
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27573
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3184
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4482
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.849114703618168e-4
allele num: 5196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 304
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1352
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1194
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.52806e5

MQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.13e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

QD
type: SiteQuality
SIO_000300: 1.07e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382546
ensembl transcript: ENST00000399637
gene symbol: CACNA1C
hgvsc: ENST00000399637.1:c.5501+47C>A
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.5444+47C>A
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 10951
bin: 7.5e0
variant carriers: 9

GenotypeDepth
all individuals: 817
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 15
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35803
bin: 2.5e0
variant carriers: 8

GenotypeDepth
all individuals: 64
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1976
bin: 1.25e1
variant carriers: 5

GenotypeDepth
all individuals: 45
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 121
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 317
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 631
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 31
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3250
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 89
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 232
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26143
bin: 7.5e0
variant carriers: 4

GenotypeQuality
all individuals: 170
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9853
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 616
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 152
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4577
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 73
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 3842
bin: 1.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1108
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 94
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5030
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 7.633587786259542e-3
allele num: 1310
num of homozygotes: 1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.18e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.144e-1

FS
type: SiteQuality
SIO_000300: 5.24e-1

DP
type: SiteQuality
SIO_000300: 2.51846e5

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 1.631e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382552
ensembl transcript: ENST00000399644
gene symbol: CACNA1C
hgvsc: ENST00000399644.1:c.5444+539dupT
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000385896
ensembl transcript: ENST00000406454
gene symbol: CACNA1C
hgvsc: ENST00000406454.3:c.5445-28dupT
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1233
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 37397
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1547
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 8042
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 1161
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 13
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 74
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 435
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 398
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1226
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2135
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4533
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2121
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31688
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6093
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 126
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 5.117707267144319e-4
allele num: 1954
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5926
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 82
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1106
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 94
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 306
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.08e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.85e-2

DP
type: SiteQuality
SIO_000300: 2.55345e5

QD
type: SiteQuality
SIO_000300: 1.336e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.86e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382537
ensembl transcript: ENST00000399629
gene symbol: CACNA1C
hgvsc: ENST00000399629.1:c.5495+540C>G
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.5444+540C>G
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1257
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37334
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 403
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8568
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 395
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1612
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1181
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 992
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6902
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3827
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1941
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2275
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 449
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32481
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1958
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5978
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 82
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1182
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 102
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.60843e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.302e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.69e-2

MQ
type: SiteQuality
SIO_000300: 5.682e1

VQSLOD
type: SiteQuality
SIO_000300: -3.133e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382500
ensembl transcript: ENST00000399591
gene symbol: CACNA1C
hgvsc: ENST00000399591.1:c.5468+593G>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.5444+593G>C
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26382
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 464
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22043
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1965
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4621
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1610
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 125
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 488
bin: 3.25e1
variant carriers: 1

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

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

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5665
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1031
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1297
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25488
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 89
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2223
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19102
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2258
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6070
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 470
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.163873370577281e-4
allele num: 8592
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.318e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
SIO_000300: 2.967e1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

DP
type: SiteQuality
SIO_000300: 4.25938e5

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382500
ensembl transcript: ENST00000399591
gene symbol: CACNA1C
hgvsc: ENST00000399591.1:c.5468+599C>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.5501+599C>A
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 528
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1779
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25874
bin: 2.5e0
variant carriers: 1

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

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4719
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2020
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 30
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 22188
bin: 7.5e0
variant carriers: 5

GenotypeDepth
all individuals: 137
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 506
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 529
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 208
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 275
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 52
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5681
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18480
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1584
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2781
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24845
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 1252
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 78
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 5.648441030275643e-4
allele num: 8852
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2290
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 496
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

European (Finnish)
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: 6460
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

FS
type: SiteQuality
SIO_000300: 2.594e0

DP
type: SiteQuality
SIO_000300: 4.34361e5

ClippingRankSum
type: SiteQuality
SIO_000300: -4.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.421e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.469e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-2

QD
type: SiteQuality
SIO_000300: 1.143e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382549
ensembl transcript: ENST00000399641
gene symbol: CACNA1C
hgvsc: ENST00000399641.1:c.5444+609C>T
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382557
ensembl transcript: ENST00000399649
gene symbol: CACNA1C
hgvsc: ENST00000399649.1:c.5462+609C>T
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1874
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25345
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 532
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2301
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5051
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 22201
bin: 7.5e0
variant carriers: 6

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

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

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 525
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1986
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6217
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 18066
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1381
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24440
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2761
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 757
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 206
bin: 9.75e1
variant carriers: 3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2290
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.081782778018174e-4
allele num: 9244
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7206
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.82e-2

FS
type: SiteQuality
SIO_000300: 8.169e0

VQSLOD
type: SiteQuality
SIO_000300: -1.037e0

DP
type: SiteQuality
SIO_000300: 4.50265e5

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 8.890000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382537
ensembl transcript: ENST00000399629
gene symbol: CACNA1C
hgvsc: ENST00000399629.1:c.5495+610G>A
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382563
ensembl transcript: ENST00000399655
gene symbol: CACNA1C
hgvsc: ENST00000399655.1:c.5444+610G>A
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 511
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 8
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1857
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 2328
bin: 2.75e1
variant carriers: 5

GenotypeDepth
all individuals: 121
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 527
bin: 3.25e1
variant carriers: 3

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5136
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22326
bin: 7.5e0
variant carriers: 2

GenotypeDepth
all individuals: 74
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25190
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 36
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2640
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 153
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1302
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6411
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1997
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 24338
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18296
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 509
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.393952391164486e-3
allele num: 9326
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 524
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2292
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.63e-1

DP
type: SiteQuality
SIO_000300: 4.5303e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.79e-2

MQ
type: SiteQuality
SIO_000300: 5.942e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.45e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.56e-1

QD
type: SiteQuality
SIO_000300: 1.22e1

VQSLOD
type: SiteQuality
SIO_000300: 3.8e-1

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000266376
ensembl transcript: ENST00000347598
gene symbol: CACNA1C
hgvsc: ENST00000347598.4:c.5588+616G>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.5468+616G>A
variant of: http://identifiers.org/hgnc/1390

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

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 111
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21939
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 504
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2385
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25341
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5306
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1876
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 532
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24122
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6494
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1623
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2531
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4034
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16099
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 164
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7638
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 534
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.071122536418166e-4
allele num: 9336
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2284
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-2

FS
type: SiteQuality
SIO_000300: 3.038e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.0e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.039e0

DP
type: SiteQuality
SIO_000300: 4.55012e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.640000000000001e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382557
ensembl transcript: ENST00000399649
gene symbol: CACNA1C
hgvsc: ENST00000399649.1:c.5462+622C>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.5567+622C>T
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 109
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2501
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 22025
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5356
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 507
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 533
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 25136
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1925
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6706
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3724
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2619
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1612
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24092
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16358
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 206
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 179
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 777
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7792
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.779359430604982e-3
allele num: 562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.058649163667161e-4
allele num: 9446
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.81e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

FS
type: SiteQuality
SIO_000300: 3.151e0

VQSLOD
type: SiteQuality
SIO_000300: -6.503e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.60855e5

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 1.478e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382504
ensembl transcript: ENST00000399595
gene symbol: CACNA1C
hgvsc: ENST00000399595.1:c.5468+623G>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.5519+623G>A
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 505
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 514
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1931
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5392
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2528
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24967
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 22189
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 8
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2552
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17050
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23999
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3215
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 795
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1572
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6855
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 43
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7826
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2292
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -5.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 6.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.86e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

DP
type: SiteQuality
SIO_000300: 4.63189e5

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382504
ensembl transcript: ENST00000399595
gene symbol: CACNA1C
hgvsc: ENST00000399595.1:c.5468+623G>T
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.5528+623G>T
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 505
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 514
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 5392
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1931
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22189
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 2528
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24967
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 36
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 105
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3215
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1572
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23999
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17050
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 795
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2552
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6855
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 43
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9536
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2292
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7826
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.56e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.86e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

QD
type: SiteQuality
SIO_000300: 6.26e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.63189e5

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382512
ensembl transcript: ENST00000399603
gene symbol: CACNA1C
hgvsc: ENST00000399603.1:c.5444+624C>T
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.5495+624C>T
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 495
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 511
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1905
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2546
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22172
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5403
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 25002
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 103
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3499
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1432
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24023
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16764
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2638
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6856
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2280
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.792114695340502e-3
allele num: 558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7848
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9558
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.965e0

DP
type: SiteQuality
SIO_000300: 4.63247e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.865e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQ
type: SiteQuality
SIO_000300: 5.766e1

MQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

QD
type: SiteQuality
SIO_000300: 1.949e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382515
ensembl transcript: ENST00000399606
gene symbol: CACNA1C
hgvsc: ENST00000399606.1:c.5504+625A>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.5444+625A>G
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 36
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5421
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1899
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 481
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2598
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 497
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24816
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22392
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2976
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23954
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 56
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17551
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1314
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2591
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7028
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 1.754385964912281e-3
allele num: 570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9634
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.268391679350583e-4
allele num: 7884
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.647e1

MQ
type: SiteQuality
SIO_000300: 5.812e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.76e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

DP
type: SiteQuality
SIO_000300: 4.65705e5

VQSLOD
type: SiteQuality
SIO_000300: -1.446e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382546
ensembl transcript: ENST00000399637
gene symbol: CACNA1C
hgvsc: ENST00000399637.1:c.5501+625A>T
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000246627
ensembl transcript: ENST00000501371
gene symbol: CACNA1C-AS1
hgvsc: ENST00000501371.1:n.295-2524T>A
variant of: http://identifiers.org/hgnc/40119

GenotypeDepth
all individuals: 481
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1899
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5421
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22392
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24816
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2598
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 4.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 497
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17551
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7028
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23954
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2591
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2976
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 807
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1314
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2280
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9634
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7884
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.812e1

QD
type: SiteQuality
SIO_000300: 1.647e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.446e0

MQRankSum
type: SiteQuality
SIO_000300: -4.71e-1

DP
type: SiteQuality
SIO_000300: 4.65705e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.76e-2

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382506
ensembl transcript: ENST00000399597
gene symbol: CACNA1C
hgvsc: ENST00000399597.1:c.5444+644A>G
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382563
ensembl transcript: ENST00000399655
gene symbol: CACNA1C
hgvsc: ENST00000399655.1:c.5444+644A>G
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1916
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 503
bin: 1.75e1
variant carriers: 0

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

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

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

GenotypeDepth
all individuals: 23875
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 487
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23406
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 8
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5554
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2662
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 805
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3007
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3451
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17675
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1327
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23015
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 202
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7234
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9764
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2296
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8002
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.058e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

DP
type: SiteQuality
SIO_000300: 4.75869e5

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

QD
type: SiteQuality
SIO_000300: 1.035e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.325e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382537
ensembl transcript: ENST00000399629
gene symbol: CACNA1C
hgvsc: ENST00000399629.1:c.5495+647A>G
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.5519+647A>G
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23761
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 503
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5582
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1925
bin: 1.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 2652
bin: 2.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 23523
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 489
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3725
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1389
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 52
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17496
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 22802
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3061
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7219
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2306
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8008
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.039151712887439e-4
allele num: 9808
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.337e1

MQRankSum
type: SiteQuality
SIO_000300: -1.744e0

QD
type: SiteQuality
SIO_000300: 1.195e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.436e0

DP
type: SiteQuality
SIO_000300: 4.76928e5

FS
type: SiteQuality
SIO_000300: 1.898e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382500
ensembl transcript: ENST00000399591
gene symbol: CACNA1C
hgvsc: ENST00000399591.1:c.5468+647A>T
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.5444+647A>T
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2652
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23761
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 23523
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 9
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 503
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1925
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 5582
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 489
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17496
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3725
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22802
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7219
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 509
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3061
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1389
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 111
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.248751248751249e-4
allele num: 8008
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2306
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.898e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.436e0

QD
type: SiteQuality
SIO_000300: 1.195e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

DP
type: SiteQuality
SIO_000300: 4.76928e5

MQRankSum
type: SiteQuality
SIO_000300: -1.744e0

MQ
type: SiteQuality
SIO_000300: 5.337e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382515
ensembl transcript: ENST00000399606
gene symbol: CACNA1C
hgvsc: ENST00000399606.1:c.5504+664C>T
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382557
ensembl transcript: ENST00000399649
gene symbol: CACNA1C
hgvsc: ENST00000399649.1:c.5462+664C>T
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 25214
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 493
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2086
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5717
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 509
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21868
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2730
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20987
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1362
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18368
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4610
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3050
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 87
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 202
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7289
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2306
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 970
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 946
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8014
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10042
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.808e-1

FS
type: SiteQuality
SIO_000300: 1.0976e1

DP
type: SiteQuality
SIO_000300: 4.93132e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.18e-2

QD
type: SiteQuality
SIO_000300: 1.617e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382552
ensembl transcript: ENST00000399644
gene symbol: CACNA1C
hgvsc: ENST00000399644.1:c.5444+668C>A
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382557
ensembl transcript: ENST00000399649
gene symbol: CACNA1C
hgvsc: ENST00000399649.1:c.5462+668C>A
variant of: http://identifiers.org/hgnc/1390

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

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2192
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2758
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 533
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21141
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 25836
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 492
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5749
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1396
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 811
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20401
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 20170
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7424
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3629
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2813
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8004
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 998
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.524390243902439e-3
allele num: 656
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2332
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 972
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.26e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.098e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

FS
type: SiteQuality
SIO_000300: 9.525e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.11e-2

MQ
type: SiteQuality
SIO_000300: 5.961e1

DP
type: SiteQuality
SIO_000300: 4.99973e5

VQSLOD
type: SiteQuality
SIO_000300: -1.136e0

QD
type: SiteQuality
SIO_000300: 1.537e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382510
ensembl transcript: ENST00000399601
gene symbol: CACNA1C
hgvsc: ENST00000399601.1:c.5444+669G>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.5444+669G>A
variant of: http://identifiers.org/hgnc/1390

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

GenotypeDepth
all individuals: 2154
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 492
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2793
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5786
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26124
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 495
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 20896
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 546
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7548
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1272
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2765
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20168
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20509
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3655
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 192
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 827
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.008064516129032e-3
allele num: 992
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 1.246261216350947e-4
allele num: 8024
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 994
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.33e-1

FS
type: SiteQuality
SIO_000300: 1.018e0

QD
type: SiteQuality
SIO_000300: 8.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.02e-2

DP
type: SiteQuality
SIO_000300: 5.02442e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382563
ensembl transcript: ENST00000399655
gene symbol: CACNA1C
hgvsc: ENST00000399655.1:c.5444+677G>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.5588+677G>C
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 378
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 27851
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2826
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2160
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 496
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6098
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19169
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 838
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2262
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 835
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2684
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23871
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18644
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7972
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1018
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10664
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1076
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.243162605668821e-4
allele num: 8044
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.613e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.62e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e0

QD
type: SiteQuality
SIO_000300: 1.076e1

MQRankSum
type: SiteQuality
SIO_000300: -1.002e0

DP
type: SiteQuality
SIO_000300: 5.18104e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000385724
ensembl transcript: ENST00000402845
gene symbol: CACNA1C
hgvsc: ENST00000402845.3:c.5501+689C>G
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.5444+689C>G
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 36
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2864
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 17837
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 368
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28940
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 495
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6295
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2306
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 8
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24775
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17255
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2204
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 828
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3108
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8147
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1058
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8066
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1200
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 4.061738424045491e-4
allele num: 2462
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.239e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.38e-2

QD
type: SiteQuality
SIO_000300: 1.462e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

MQ
type: SiteQuality
SIO_000300: 5.805e1

DP
type: SiteQuality
SIO_000300: 5.29578e5

FS
type: SiteQuality
SIO_000300: 2.632e0

VQSLOD
type: SiteQuality
SIO_000300: -2.445e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382530
ensembl transcript: ENST00000399621
gene symbol: CACNA1C
hgvsc: ENST00000399621.1:c.5501+697G>T
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.5495+697G>T
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 2419
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29312
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 72
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 498
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17310
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2914
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 383
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6318
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16710
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25242
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 846
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2173
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3159
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8230
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 855
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 203
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 1.237317495669389e-4
allele num: 8082
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1202
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1062
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.28e-1

DP
type: SiteQuality
SIO_000300: 5.35097e5

VQSLOD
type: SiteQuality
SIO_000300: -1.599e0

QD
type: SiteQuality
SIO_000300: 1.109e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

FS
type: SiteQuality
SIO_000300: 1.685e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.31e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.13e-1

MQ
type: SiteQuality
SIO_000300: 5.837e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382504
ensembl transcript: ENST00000399595
gene symbol: CACNA1C
hgvsc: ENST00000399595.1:c.5468+703G>A
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.5504+703G>A
variant of: http://identifiers.org/hgnc/1390

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

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 381
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 507
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2928
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29614
bin: 7.5e0
variant carriers: 1

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

GenotypeDepth
all individuals: 105
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16936
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 6335
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2490
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25748
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 166
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2093
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16396
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3116
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 766
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 8286
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8074
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 254
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1224
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1086
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.24e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.638e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.38261e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.017e0

VQSLOD
type: SiteQuality
SIO_000300: -2.788e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 6.3e0

GenotypeDepth
all individuals: 105
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 6310
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 511
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 29617
bin: 7.5e0
variant carriers: 7

GenotypeDepth
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2577
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2911
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 388
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16856
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16245
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 888
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8178
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25389
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 3508
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2099
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 848
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1080
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 8.097165991902834e-4
allele num: 2470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1218
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8080
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.8e-1

DP
type: SiteQuality
SIO_000300: 5.3829e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.92e0

QD
type: SiteQuality
SIO_000300: 5.56e0

VQSLOD
type: SiteQuality
SIO_000300: 5.590000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.27e-2

MQ
type: SiteQuality
SIO_000300: 5.176e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382546
ensembl transcript: ENST00000399637
gene symbol: CACNA1C
hgvsc: ENST00000399637.1:c.5501+717G>A
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382557
ensembl transcript: ENST00000399649
gene symbol: CACNA1C
hgvsc: ENST00000399649.1:c.5462+717G>A
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 2724
bin: 1.25e1
variant carriers: 3

GenotypeDepth
all individuals: 5
bin: 9.25e1
variant carriers: 5

GenotypeDepth
all individuals: 30
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 107
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6338
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 376
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 30444
bin: 7.5e0
variant carriers: 4

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

GenotypeDepth
all individuals: 13
bin: 6.75e1
variant carriers: 6

GenotypeDepth
all individuals: 5
bin: 8.75e1
variant carriers: 5

GenotypeDepth
all individuals: 73
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 15922
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 8.25e1
variant carriers: 4

GenotypeDepth
all individuals: 17
bin: 5.75e1
variant carriers: 3

GenotypeDepth
all individuals: 7
bin: 7.25e1
variant carriers: 5

GenotypeDepth
all individuals: 510
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 7.75e1
variant carriers: 4

GenotypeDepth
all individuals: 11
bin: 6.25e1
variant carriers: 3

GenotypeDepth
all individuals: 17
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 694
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8209
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 48
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15548
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2557
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 256
bin: 9.75e1
variant carriers: 53

GenotypeQuality
all individuals: 160
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 827
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27728
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 127
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1674
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 8.156606851549756e-4
allele num: 2452
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 3.937007874015748e-3
allele num: 254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11798
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 924
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1266
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1130
num of homozygotes: 0

South Asian
type: Population
allele count: 52
allele frequency: 6.437236939836593e-3
allele num: 8078
num of homozygotes: 2

MQ
type: SiteQuality
SIO_000300: 5.923e1

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.16e0

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 5.48e5

QD
type: SiteQuality
SIO_000300: 1.052e1

FS
type: SiteQuality
SIO_000300: 1.802e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.06e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382500
ensembl transcript: ENST00000399591
gene symbol: CACNA1C
hgvsc: ENST00000399591.1:c.5468+719G>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.5501+719G>A
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2850
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 4.25e1
variant carriers: 0

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

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

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

GenotypeDepth
all individuals: 2796
bin: 1.25e1
variant carriers: 9

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6399
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15694
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30602
bin: 7.5e0
variant carriers: 10

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 371
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28327
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 841
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 8279
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 215
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 15367
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1563
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 116
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2288
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 46
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 139
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2472
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11886
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.237930180737806e-4
allele num: 8078
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 932
num of homozygotes: 0

East Asian
type: Population
allele count: 11
allele frequency: 9.548611111111112e-3
allele num: 1152
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

DP
type: SiteQuality
SIO_000300: 5.4758e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.539999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.97e-1

FS
type: SiteQuality
SIO_000300: 4.645e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.04e-2

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382557
ensembl transcript: ENST00000399649
gene symbol: CACNA1C
hgvsc: ENST00000399649.1:c.5462+723C>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.5504+723C>T
variant of: http://identifiers.org/hgnc/1390

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

GenotypeDepth
all individuals: 30435
bin: 7.5e0
variant carriers: 7

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 496
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15833
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 384
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 72
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 9
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6348
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2857
bin: 1.25e1
variant carriers: 3

GenotypeDepth
all individuals: 2852
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 9.75e1
variant carriers: 6

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

GenotypeQuality
all individuals: 15533
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2740
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 660
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 834
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 445
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 75
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1497
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27846
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 127
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 48
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 191
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8197
bin: 6.25e1
variant carriers: 2

Latino
type: Population
allele count: 6
allele frequency: 6.302521008403362e-3
allele num: 952
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1154
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8090
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11918
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1280
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.11e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

FS
type: SiteQuality
SIO_000300: 6.49e-1

QD
type: SiteQuality
SIO_000300: 1.023e1

DP
type: SiteQuality
SIO_000300: 5.46232e5

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382530
ensembl transcript: ENST00000399621
gene symbol: CACNA1C
hgvsc: ENST00000399621.1:c.5501+735A>G
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382563
ensembl transcript: ENST00000399655
gene symbol: CACNA1C
hgvsc: ENST00000399655.1:c.5444+735A>G
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6143
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 408
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3094
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16538
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2777
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29692
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 490
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 8
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 7.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28060
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16379
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2220
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 559
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 7985
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1324
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.238850346878097e-4
allele num: 8072
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11940
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2446
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1258
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 978
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1180
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.39848e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

FS
type: SiteQuality
SIO_000300: 2.299e0

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.22e-2

VQSLOD
type: SiteQuality
SIO_000300: -8.769e-1

MQ
type: SiteQuality
SIO_000300: 5.916e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.105e0

QD
type: SiteQuality
SIO_000300: 1.639e1

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000266376
ensembl transcript: ENST00000347598
gene symbol: CACNA1C
hgvsc: ENST00000347598.4:c.5588+769C>G
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.5468+769C>G
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 3139
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5176
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 482
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21529
bin: 7.5e0
variant carriers: 3

GenotypeDepth
all individuals: 24942
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 330
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2553
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 8
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 986
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1923
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6904
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24991
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20328
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 138
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 83
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2172
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1024
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 994
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.77e-2

QD
type: SiteQuality
SIO_000300: 1.287e1

VQSLOD
type: SiteQuality
SIO_000300: -5.296e-1

DP
type: SiteQuality
SIO_000300: 4.74044e5

FS
type: SiteQuality
SIO_000300: 2.392e0

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382552
ensembl transcript: ENST00000399644
gene symbol: CACNA1C
hgvsc: ENST00000399644.1:c.5444+774T>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.5495+774T>A
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 470
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3090
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 5030
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2507
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26856
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19536
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 103
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 300
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26984
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 778
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18477
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1668
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6750
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 9.75e1
variant carriers: 1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1006
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10194
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2128
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 960
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.273885350318471e-4
allele num: 7850
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

DP
type: SiteQuality
SIO_000300: 4.58397e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 3.883e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.97e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.749e-1

QD
type: SiteQuality
SIO_000300: 1.05e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382557
ensembl transcript: ENST00000399649
gene symbol: CACNA1C
hgvsc: ENST00000399649.1:c.5462+774T>C
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382563
ensembl transcript: ENST00000399655
gene symbol: CACNA1C
hgvsc: ENST00000399655.1:c.5444+774T>C
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2507
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 300
bin: 1.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 26856
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 470
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3090
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5030
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19536
bin: 7.5e0
variant carriers: 4

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 26984
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 424
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 778
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1668
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18477
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6750
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 44
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 9.25e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2128
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7850
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 960
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1006
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10194
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

QD
type: SiteQuality
SIO_000300: 1.05e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.97e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.749e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 3.883e0

DP
type: SiteQuality
SIO_000300: 4.58397e5

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382549
ensembl transcript: ENST00000399641
gene symbol: CACNA1C
hgvsc: ENST00000399641.1:c.5444+815A>C
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.5501+815A>C
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 6486
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1430
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3644
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 274
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33360
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2176
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 4.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 886
bin: 2.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 306
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 958
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28756
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1840
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 924
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2274
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5772
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 974
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4205
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 366
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.405283867341203e-4
allele num: 7116
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6820
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1592
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

QD
type: SiteQuality
SIO_000300: 3.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.0e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.175e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.78e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.98e-2

DP
type: SiteQuality
SIO_000300: 2.84136e5

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382549
ensembl transcript: ENST00000399641
gene symbol: CACNA1C
hgvsc: ENST00000399641.1:c.5444+816T>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.5444+816T>G
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 33062
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2286
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 270
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1367
bin: 2.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 8
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3594
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 829
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6465
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6225
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 971
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3963
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28014
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1010
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1641
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2363
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1013
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 64
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1326
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 366
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6742
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.412429378531073e-4
allele num: 7080
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1566
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.01e-1

QD
type: SiteQuality
SIO_000300: 2.05e1

DP
type: SiteQuality
SIO_000300: 2.81064e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.056e0

MQRankSum
type: SiteQuality
SIO_000300: -5.679999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.920000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.24e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382530
ensembl transcript: ENST00000399621
gene symbol: CACNA1C
hgvsc: ENST00000399621.1:c.5501+825A>G
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.5468+825A>G
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 2486
bin: 1.75e1
variant carriers: 362

GenotypeDepth
all individuals: 18
bin: 5.75e1
variant carriers: 9

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 5

GenotypeDepth
all individuals: 3299
bin: 1.25e1
variant carriers: 405

GenotypeDepth
all individuals: 6505
bin: 7.5e0
variant carriers: 845

GenotypeDepth
all individuals: 30488
bin: 2.5e0
variant carriers: 668

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

GenotypeDepth
all individuals: 221
bin: 3.25e1
variant carriers: 45

GenotypeDepth
all individuals: 1346
bin: 2.25e1
variant carriers: 200

GenotypeDepth
all individuals: 47
bin: 4.75e1
variant carriers: 19

GenotypeDepth
all individuals: 102
bin: 3.75e1
variant carriers: 18

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

GenotypeDepth
all individuals: 531
bin: 2.75e1
variant carriers: 98

GenotypeDepth
all individuals: 17
bin: 6.25e1
variant carriers: 10

GenotypeDepth
all individuals: 6
bin: 7.75e1
variant carriers: 2

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 2

GenotypeDepth
all individuals: 33
bin: 5.25e1
variant carriers: 10

GenotypeDepth
all individuals: 12
bin: 6.75e1
variant carriers: 7

GenotypeDepth
all individuals: 66
bin: 4.25e1
variant carriers: 11

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 392
bin: 4.25e1
variant carriers: 12

GenotypeQuality
all individuals: 47
bin: 8.75e1
variant carriers: 7

GenotypeQuality
all individuals: 2321
bin: 1.25e1
variant carriers: 153

GenotypeQuality
all individuals: 70
bin: 5.75e1
variant carriers: 40

GenotypeQuality
all individuals: 20305
bin: 7.5e0
variant carriers: 297

GenotypeQuality
all individuals: 254
bin: 6.75e1
variant carriers: 94

GenotypeQuality
all individuals: 1021
bin: 3.75e1
variant carriers: 19

GenotypeQuality
all individuals: 10984
bin: 2.5e0
variant carriers: 3

GenotypeQuality
all individuals: 1503
bin: 1.75e1
variant carriers: 123

GenotypeQuality
all individuals: 2505
bin: 2.25e1
variant carriers: 48

GenotypeQuality
all individuals: 149
bin: 7.25e1
variant carriers: 71

GenotypeQuality
all individuals: 66
bin: 8.25e1
variant carriers: 13

GenotypeQuality
all individuals: 723
bin: 6.25e1
variant carriers: 61

GenotypeQuality
all individuals: 107
bin: 7.75e1
variant carriers: 33

GenotypeQuality
all individuals: 531
bin: 4.75e1
variant carriers: 25

GenotypeQuality
all individuals: 1790
bin: 9.75e1
variant carriers: 1633

GenotypeQuality
all individuals: 1237
bin: 3.25e1
variant carriers: 23

GenotypeQuality
all individuals: 265
bin: 5.25e1
variant carriers: 31

GenotypeQuality
all individuals: 876
bin: 2.75e1
variant carriers: 19

GenotypeQuality
all individuals: 47
bin: 9.25e1
variant carriers: 15

East Asian
type: Population
allele count: 83
allele frequency: 1.525735294117647e-1
allele num: 544
num of homozygotes: 8

Other
type: Population
allele count: 7
allele frequency: 4.26829268292683e-2
allele num: 164
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 298
allele frequency: 4.700315457413249e-2
allele num: 6340
num of homozygotes: 9

African
type: Population
allele count: 531
allele frequency: 3.563758389261745e-1
allele num: 1490
num of homozygotes: 85

European (Finnish)
type: Population
allele count: 24
allele frequency: 5.504587155963303e-2
allele num: 436
num of homozygotes: 0

Latino
type: Population
allele count: 56
allele frequency: 1.590909090909091e-1
allele num: 352
num of homozygotes: 5

South Asian
type: Population
allele count: 321
allele frequency: 4.75414691943128e-2
allele num: 6752
num of homozygotes: 11

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

MQ
type: SiteQuality
SIO_000300: 5.662e1

DP
type: SiteQuality
SIO_000300: 2.71048e5

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

QD
type: SiteQuality
SIO_000300: 2.213e1

MQRankSum
type: SiteQuality
SIO_000300: -3.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.73e-2

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382563
ensembl transcript: ENST00000399655
gene symbol: CACNA1C
hgvsc: ENST00000399655.1:c.5444+827C>G
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.5588+827C>G
variant of: http://identifiers.org/hgnc/1390

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

GenotypeDepth
all individuals: 47
bin: 4.75e1
variant carriers: 19

GenotypeDepth
all individuals: 66
bin: 4.25e1
variant carriers: 11

GenotypeDepth
all individuals: 3282
bin: 1.25e1
variant carriers: 440

GenotypeDepth
all individuals: 6400
bin: 7.5e0
variant carriers: 789

GenotypeDepth
all individuals: 104
bin: 3.75e1
variant carriers: 19

GenotypeDepth
all individuals: 5
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4
bin: 7.25e1
variant carriers: 3

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 16
bin: 5.75e1
variant carriers: 7

GenotypeDepth
all individuals: 30731
bin: 2.5e0
variant carriers: 753

GenotypeDepth
all individuals: 35
bin: 5.25e1
variant carriers: 12

GenotypeDepth
all individuals: 2450
bin: 1.75e1
variant carriers: 353

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

GenotypeDepth
all individuals: 498
bin: 2.75e1
variant carriers: 87

GenotypeDepth
all individuals: 1339
bin: 2.25e1
variant carriers: 175

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 4

GenotypeDepth
all individuals: 17
bin: 6.25e1
variant carriers: 10

GenotypeDepth
all individuals: 11
bin: 6.75e1
variant carriers: 6

GenotypeDepth
all individuals: 207
bin: 3.25e1
variant carriers: 31

GenotypeQuality
all individuals: 380
bin: 5.25e1
variant carriers: 31

GenotypeQuality
all individuals: 47
bin: 9.25e1
variant carriers: 15

GenotypeQuality
all individuals: 1223
bin: 3.25e1
variant carriers: 23

GenotypeQuality
all individuals: 850
bin: 2.75e1
variant carriers: 19

GenotypeQuality
all individuals: 564
bin: 4.75e1
variant carriers: 25

GenotypeQuality
all individuals: 1885
bin: 1.75e1
variant carriers: 123

GenotypeQuality
all individuals: 147
bin: 7.25e1
variant carriers: 71

GenotypeQuality
all individuals: 1003
bin: 3.75e1
variant carriers: 19

GenotypeQuality
all individuals: 233
bin: 6.75e1
variant carriers: 94

GenotypeQuality
all individuals: 118
bin: 5.75e1
variant carriers: 40

GenotypeQuality
all individuals: 18656
bin: 7.5e0
variant carriers: 297

GenotypeQuality
all individuals: 106
bin: 7.75e1
variant carriers: 33

GenotypeQuality
all individuals: 2385
bin: 1.25e1
variant carriers: 153

GenotypeQuality
all individuals: 2063
bin: 2.25e1
variant carriers: 48

GenotypeQuality
all individuals: 1789
bin: 9.75e1
variant carriers: 1632

GenotypeQuality
all individuals: 405
bin: 4.25e1
variant carriers: 13

GenotypeQuality
all individuals: 12735
bin: 2.5e0
variant carriers: 3

GenotypeQuality
all individuals: 48
bin: 8.75e1
variant carriers: 8

GenotypeQuality
all individuals: 518
bin: 6.25e1
variant carriers: 61

GenotypeQuality
all individuals: 66
bin: 8.25e1
variant carriers: 13

European (Finnish)
type: Population
allele count: 22
allele frequency: 5.314009661835749e-2
allele num: 414
num of homozygotes: 0

Latino
type: Population
allele count: 54
allele frequency: 1.569767441860465e-1
allele num: 344
num of homozygotes: 5

African
type: Population
allele count: 523
allele frequency: 3.577291381668947e-1
allele num: 1462
num of homozygotes: 82

Other
type: Population
allele count: 7
allele frequency: 4.320987654320987e-2
allele num: 162
num of homozygotes: 0

East Asian
type: Population
allele count: 82
allele frequency: 1.529850746268657e-1
allele num: 536
num of homozygotes: 8

European (Non-Finnish)
type: Population
allele count: 287
allele frequency: 4.743801652892562e-2
allele num: 6050
num of homozygotes: 9

South Asian
type: Population
allele count: 313
allele frequency: 4.8467017652524e-2
allele num: 6458
num of homozygotes: 10

BaseQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

QD
type: SiteQuality
SIO_000300: 2.306e1

MQ
type: SiteQuality
SIO_000300: 5.652e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.55e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

DP
type: SiteQuality
SIO_000300: 2.68324e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382526
ensembl transcript: ENST00000399617
gene symbol: CACNA1C
hgvsc: ENST00000399617.1:c.5445-50G>A
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.5658-650G>A
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 2990
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 900
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3580
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1184
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 326
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5535
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 145
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9148
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2603
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 798
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 289
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 490
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4958
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8319
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1217
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6808
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8257
bin: 2.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 1807
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31059
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 87
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3855
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 534
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3542
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3727
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1451
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1118
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3556
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3780
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2386
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2303
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.031991744066047e-4
allele num: 9690
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65868
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.1e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.123e0

VQSLOD
type: SiteQuality
SIO_000300: -6.809999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.276e1

MQ
type: SiteQuality
SIO_000300: 5.914e1

DP
type: SiteQuality
SIO_000300: 2.359594e6

FS
type: SiteQuality
SIO_000300: 5.988e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000341092
ensembl transcript: ENST00000344100
gene symbol: CACNA1C
hgvsc: ENST00000344100.3:c.5568-649G>C
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000246627
ensembl transcript: ENST00000501371
gene symbol: CACNA1C-AS1
hgvsc: ENST00000501371.1:n.295-4004C>G
variant of: http://identifiers.org/hgnc/40119

GenotypeDepth
all individuals: 900
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2904
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8268
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5609
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8323
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2602
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 287
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6810
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9146
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 798
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1217
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1807
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 326
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3581
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1183
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 490
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4958
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2309
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2373
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31070
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3795
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3951
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3860
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3585
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3545
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1419
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1113
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 5.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517404631118934e-5
allele num: 65902
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9696
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: -8.0e-2

QD
type: SiteQuality
SIO_000300: 1.317e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-2

DP
type: SiteQuality
SIO_000300: 2.359971e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.089e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000336982
ensembl transcript: ENST00000335762
gene symbol: CACNA1C
hgvsc: ENST00000335762.5:c.5520-649G>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.5445-649G>T
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 2904
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6810
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1807
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5609
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4958
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9146
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 287
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1217
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 490
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2602
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3581
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 8268
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8323
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 326
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 798
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 900
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1183
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1113
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3951
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3860
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2373
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1419
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3545
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3585
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2309
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3795
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31070
bin: 9.75e1
variant carriers: 1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9696
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.172882946281961e-4
allele num: 8526
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: 65902
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.52e0

DP
type: SiteQuality
SIO_000300: 2.359971e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.089e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -8.0e-2

QD
type: SiteQuality
SIO_000300: 1.317e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000336982
ensembl transcript: ENST00000335762
gene symbol: CACNA1C
hgvsc: ENST00000335762.5:c.5520-647A>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.5568-647A>G
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 1177
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 798
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8328
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 326
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3581
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2494
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 900
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6813
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5939
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1808
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 285
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4961
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8291
bin: 2.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 490
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1217
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9199
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2602
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2388
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1063
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4552
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3559
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3879
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3627
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31074
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3806
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2320
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1073
bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9696
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517312536036173e-5
allele num: 65906
num of homozygotes: 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: 16466
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.88e-1

DP
type: SiteQuality
SIO_000300: 2.362336e6

FS
type: SiteQuality
SIO_000300: 7.707e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

QD
type: SiteQuality
SIO_000300: 1.191e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382546
ensembl transcript: ENST00000399637
gene symbol: CACNA1C
hgvsc: ENST00000399637.1:c.5502-638G>A
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.5445-638G>A
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 2602
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 900
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3582
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 909
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8388
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4975
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1217
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1808
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 671
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 874
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9566
bin: 3.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 6823
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 7192
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 798
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 326
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 490
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8498
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6312
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3631
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2397
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 235
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3904
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3779
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31141
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3963
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2431
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.549038636501486e-5
allele num: 65948
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.665511265164645e-5
allele num: 11540
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9698
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.82e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.1e0

MQRankSum
type: SiteQuality
SIO_000300: 3.64e-1

QD
type: SiteQuality
SIO_000300: 1.108e1

FS
type: SiteQuality
SIO_000300: 4.665e0

DP
type: SiteQuality
SIO_000300: 2.378992e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.37e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382515
ensembl transcript: ENST00000399606
gene symbol: CACNA1C
hgvsc: ENST00000399606.1:c.5505-633A>G
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.5658-633A>G
variant of: http://identifiers.org/hgnc/1390

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

GenotypeDepth
all individuals: 226
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2602
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1808
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6848
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8411
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 478
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7533
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8664
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 625
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4979
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 327
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 798
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 900
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 490
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3583
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1217
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9733
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31185
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2498
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 286
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3672
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3890
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4016
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2437
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6765
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4047
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
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: 11546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9704
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66032
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.657e0

QD
type: SiteQuality
SIO_000300: 1.147e1

MQRankSum
type: SiteQuality
SIO_000300: -1.271e0

DP
type: SiteQuality
SIO_000300: 2.387728e6

FS
type: SiteQuality
SIO_000300: 2.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.42e-1

MQ
type: SiteQuality
SIO_000300: 5.88e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.11e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.557e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382563
ensembl transcript: ENST00000399655
gene symbol: CACNA1C
hgvsc: ENST00000399655.1:c.5445-632G>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.5520-632G>A
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 424
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6849
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1808
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 218
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8418
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1217
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3583
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 588
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7569
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 327
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9769
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2602
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 490
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8682
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 900
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4980
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 798
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 96
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2442
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4025
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4049
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6861
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 140
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2494
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31187
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3875
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3675
bin: 9.25e1
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: 0
allele frequency: 0.0e0
allele num: 66040
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.069434328720563e-5
allele num: 16476
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9704
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.167e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.98e-1

DP
type: SiteQuality
SIO_000300: 2.389078e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.887e0

MQRankSum
type: SiteQuality
SIO_000300: 1.65e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.422e0

QD
type: SiteQuality
SIO_000300: 1.821e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382549
ensembl transcript: ENST00000399641
gene symbol: CACNA1C
hgvsc: ENST00000399641.1:c.5445-622T>C
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.5445-22T>C
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 7799
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3584
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 491
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 9941
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 799
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 110
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 154
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 8824
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4991
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1217
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 327
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1808
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 899
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 314
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8458
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6863
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2604
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2554
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3731
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4087
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4127
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3945
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7214
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2490
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31229
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 134
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511990081345066e-5
allele num: 66138
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9718
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

QD
type: SiteQuality
SIO_000300: 1.798e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.2e0

DP
type: SiteQuality
SIO_000300: 2.397985e6

MQ
type: SiteQuality
SIO_000300: 5.949e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.8e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382546
ensembl transcript: ENST00000399637
gene symbol: CACNA1C
hgvsc: ENST00000399637.1:c.5502-613C>T
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.5445-613C>T
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 161
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6877
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1223
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7819
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10037
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1809
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3588
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 106
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 327
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2609
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8475
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8936
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 799
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4998
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 899
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 491
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4180
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4135
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2580
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7293
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31263
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 48
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3741
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4011
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2515
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.21197430614471e-4
allele num: 16502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66180
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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.211e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e-1

DP
type: SiteQuality
SIO_000300: 2.403547e6

VQSLOD
type: SiteQuality
SIO_000300: 2.47e-1

MQ
type: SiteQuality
SIO_000300: 5.941e1

FS
type: SiteQuality
SIO_000300: 1.926e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-2

QD
type: SiteQuality
SIO_000300: 1.743e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000341092
ensembl transcript: ENST00000344100
gene symbol: CACNA1C
hgvsc: ENST00000344100.3:c.5568-611T>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.5445-611T>C
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 1814
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8477
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8936
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7818
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 266
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 800
bin: 9.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 3588
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 107
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10054
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6880
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 898
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5001
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2614
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1224
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 328
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 491
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 96
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31286
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 4187
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2522
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4014
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4140
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3747
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7288
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2594
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.532132821705895e-5
allele num: 66194
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
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: 3.49e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e-1

QD
type: SiteQuality
SIO_000300: 1.96e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.133e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.898e1

FS
type: SiteQuality
SIO_000300: 4.047e0

DP
type: SiteQuality
SIO_000300: 2.404903e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382504
ensembl transcript: ENST00000399595
gene symbol: CACNA1C
hgvsc: ENST00000399595.1:c.5469-601G>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.5520-601G>A
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 70
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8985
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6884
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7785
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2621
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5013
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 671
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 86
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 110
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1228
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10074
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 327
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 493
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 267
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 901
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3592
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 804
bin: 9.75e1
variant carriers: 2

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

GenotypeDepth
all individuals: 8497
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31325
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 34
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4217
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4158
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2605
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7290
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4040
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3750
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2527
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.039559112184811e-5
allele num: 66230
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.408536e6

MQRankSum
type: SiteQuality
SIO_000300: 1.23e-1

QD
type: SiteQuality
SIO_000300: 3.404e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.367e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.277e-1

FS
type: SiteQuality
SIO_000300: 1.465e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e-1

MQ
type: SiteQuality
SIO_000300: 5.867e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382557
ensembl transcript: ENST00000399649
gene symbol: CACNA1C
hgvsc: ENST00000399649.1:c.5463-597A>G
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.5469-597A>G
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 8991
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6888
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1230
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10086
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 7779
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1817
bin: 6.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 78
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8496
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5013
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2623
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 269
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 493
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3591
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 903
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 326
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 804
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4046
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3753
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4219
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2530
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4164
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2608
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31333
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7284
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66236
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.817080557238038e-4
allele num: 16510
num of homozygotes: 1

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.36e0

MQ
type: SiteQuality
SIO_000300: 5.837e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.66e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.78e-1

FS
type: SiteQuality
SIO_000300: 9.04e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.538e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

QD
type: SiteQuality
SIO_000300: 1.388e1

DP
type: SiteQuality
SIO_000300: 2.409347e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.84e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382504
ensembl transcript: ENST00000399595
gene symbol: CACNA1C
hgvsc: ENST00000399595.1:c.5469-591C>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.5502-591C>T
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 327
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1817
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5015
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 493
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 58
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2624
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6887
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 99
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 67
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10097
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7767
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9005
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 8498
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1230
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 903
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 805
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3595
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 66
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3754
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4173
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 93
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2533
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2617
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4052
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4224
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31339
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7258
bin: 6.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.018685664261781e-5
allele num: 66254
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.986e0

QD
type: SiteQuality
SIO_000300: 1.255e1

MQ
type: SiteQuality
SIO_000300: 5.704e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 2.410193e6

MQRankSum
type: SiteQuality
SIO_000300: -3.99e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.15e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382563
ensembl transcript: ENST00000399655
gene symbol: CACNA1C
hgvsc: ENST00000399655.1:c.5445-589T>C
variant of: http://identifiers.org/hgnc/1390

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382504
ensembl transcript: ENST00000399595
gene symbol: CACNA1C
hgvsc: ENST00000399595.1:c.5469-589T>C
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 2624
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 494
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 7763
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10100
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8500
bin: 3.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 97
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 328
bin: 8.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 805
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6885
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1230
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1817
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 903
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3595
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5015
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9015
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7261
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31341
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2535
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4227
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4176
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2616
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3758
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 64
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4052
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66260
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

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

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

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.322880371660859e-4
allele num: 8610
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

MQ
type: SiteQuality
SIO_000300: 5.924e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

QD
type: SiteQuality
SIO_000300: 1.533e1

VQSLOD
type: SiteQuality
SIO_000300: 4.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.88e0

DP
type: SiteQuality
SIO_000300: 2.410544e6

FS
type: SiteQuality
SIO_000300: 2.257e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000151067
ensembl protein: ENSP00000382563
ensembl transcript: ENST00000399655
gene symbol: CACNA1C
hgvsc: ENST00000399655.1:c.5445-586C>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.5505-586C>T
variant of: http://identifiers.org/hgnc/1390

GenotypeDepth
all individuals: 24
bin: 7.5e0
variant carriers: 20

GenotypeDepth
all individuals: 28792
bin: 9.75e1
variant carriers: 28685

GenotypeDepth
all individuals: 850
bin: 3.25e1
variant carriers: 454

GenotypeDepth
all individuals: 3408
bin: 8.75e1
variant carriers: 3366

GenotypeDepth
all individuals: 77
bin: 1.75e1
variant carriers: 75

GenotypeDepth
all individuals: 2470
bin: 6.25e1
variant carriers: 2234

GenotypeDepth
all individuals: 615
bin: 2.75e1
variant carriers: 275

GenotypeDepth
all individuals: 3267
bin: 8.25e1
variant carriers: 3213

GenotypeDepth
all individuals: 2152
bin: 5.75e1
variant carriers: 1846

GenotypeDepth
all individuals: 25
bin: 1.25e1
variant carriers: 23

GenotypeDepth
all individuals: 2935
bin: 7.25e1
variant carriers: 2819

GenotypeDepth
all individuals: 397
bin: 2.25e1
variant carriers: 143

GenotypeDepth
all individuals: 3173
bin: 7.75e1
variant carriers: 3089

GenotypeDepth
all individuals: 2666
bin: 6.75e1
variant carriers: 2503

GenotypeDepth
all individuals: 59
bin: 2.5e0
variant carriers: 22

GenotypeDepth
all individuals: 1357
bin: 4.25e1
variant carriers: 851

GenotypeDepth
all individuals: 1581
bin: 4.75e1
variant carriers: 1136

GenotypeDepth
all individuals: 1091
bin: 3.75e1
variant carriers: 649

GenotypeDepth
all individuals: 3483
bin: 9.25e1
variant carriers: 3436

GenotypeDepth
all individuals: 1809
bin: 5.25e1
variant carriers: 1479

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 30

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 18

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 10

GenotypeQuality
all individuals: 58350
bin: 9.75e1
variant carriers: 55635

GenotypeQuality
all individuals: 282
bin: 9.25e1
variant carriers: 121

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 22

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 15

GenotypeQuality
all individuals: 273
bin: 8.25e1
variant carriers: 88

GenotypeQuality
all individuals: 50
bin: 7.5e0
variant carriers: 24

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 8

GenotypeQuality
all individuals: 234
bin: 7.75e1
variant carriers: 74

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 18

GenotypeQuality
all individuals: 35
bin: 2.5e0
variant carriers: 9

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 11

GenotypeQuality
all individuals: 206
bin: 6.75e1
variant carriers: 57

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 29

GenotypeQuality
all individuals: 136
bin: 7.25e1
variant carriers: 25

GenotypeQuality
all individuals: 173
bin: 8.75e1
variant carriers: 62

GenotypeQuality
all individuals: 283
bin: 6.25e1
variant carriers: 43

GenotypeQuality
all individuals: 22
bin: 2.25e1
variant carriers: 19

South Asian
type: Population
allele count: 13902
allele frequency: 8.42137145626363e-1
allele num: 16508
num of homozygotes: 5876

East Asian
type: Population
allele count: 5084
allele frequency: 5.925407925407925e-1
allele num: 8580
num of homozygotes: 1510

African
type: Population
allele count: 4765
allele frequency: 4.883172781307645e-1
allele num: 9758
num of homozygotes: 1197

Latino
type: Population
allele count: 8969
allele frequency: 7.75596679349706e-1
allele num: 11564
num of homozygotes: 3471

Other
type: Population
allele count: 732
allele frequency: 8.133333333333334e-1
allele num: 900
num of homozygotes: 305

European (Finnish)
type: Population
allele count: 5614
allele frequency: 8.493192133131618e-1
allele num: 6610
num of homozygotes: 2391

European (Non-Finnish)
type: Population
allele count: 53748
allele frequency: 8.109478258245572e-1
allele num: 66278
num of homozygotes: 21822

VQSLOD
type: SiteQuality
SIO_000300: 3.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

DP
type: SiteQuality
SIO_000300: 5.928425e6

FS
type: SiteQuality
SIO_000300: 1.206e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.850000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.71e-1

QD
type: SiteQuality
SIO_000300: 3.416e1

MQ
type: SiteQuality
SIO_000300: 5.945e1