17-48695295-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695295
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695295
    reference: chr 17
allele count: 1
allele frequency: 8.342370901810295e-6
allele num: 119870
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.5172+5C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.5103+5C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.5172+5C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.5226+5C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5124+5C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.5193+5C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.5157+5C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.5193+5C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.5193+5C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.5157+5C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.5055+5C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.5103+5C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.5193+5C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5172+5C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.5124+5C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.5124+5C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5136+26C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5091+5C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.5205+26C>T
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.5226+5C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

17-48695296-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695296
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695296
    reference: chr 17
allele count: 5
allele frequency: 4.172020759975301e-5
allele num: 119846
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.5193+6C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5136+27C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.5124+6C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5091+6C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.5091+6C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.5226+6C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.5055+6C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.5157+6C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.5124+6C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.5193+6C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.5205+27C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5124+6C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.5157+6C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.5124+6C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5172+6C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.5103+6C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.5172+6C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.5124+6C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.5193+6C>T
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.5226+6C>T
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

17-48695297-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695297
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695297
    reference: chr 17
allele count: 230
allele frequency: 1.919161576716398e-3
allele num: 119844
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.5157+7G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.5091+7G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.5193+7G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.5124+7G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5124+7G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.5226+7G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.5172+7G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.5103+7G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.5070+7G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.5103+7G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.5157+7G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.5226+7G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.5226+7G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.5193+7G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5172+7G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.5124+7G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5091+7G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.5226+7G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.5193+7G>A
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.5226+7G>A
num of homozygotes: 6
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum

17-48695303-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695303
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695304
    reference: chr 17
allele count: 5
allele frequency: 4.175156150840041e-5
allele num: 119756
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.5226+19dupG
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.5124+19dupG
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.5124+19dupG
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.5226+19dupG
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.5193+19dupG
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5136+40dupG
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5091+19dupG
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.5151+40dupG
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.5157+19dupG
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.5103+19dupG
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.5172+19dupG
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5172+19dupG
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.5226+19dupG
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.5193+19dupG
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.5193+19dupG
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.5226+19dupG
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.5091+19dupG
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.5124+19dupG
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.5103+19dupG
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.5157+19dupG
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
reference allele: T
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

17-48695304-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695304
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695304
    reference: chr 17
allele count: 2
allele frequency: 1.6679454248257e-5
allele num: 119908
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.5157+14G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.5193+14G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.5226+14G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.5055+14G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.5193+14G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.5124+14G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.5103+14G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.5157+14G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.5157+14G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.5226+14G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.5103+14G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.5226+14G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.5124+14G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5136+35G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.5151+35G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.5124+14G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5124+14G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5172+14G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.5226+14G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.5205+35G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.5226+14G>C
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

17-48695307-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695307
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695307
    reference: chr 17
allele count: 1
allele frequency: 8.33694600993764e-6
allele num: 119948
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.5193+17G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5124+17G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.5226+17G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.5124+17G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.5172+17G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.5226+17G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.5103+17G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.5151+38G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.5226+17G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.5070+17G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.5193+17G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5091+17G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5136+38G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.5193+17G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.5226+17G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.5157+17G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.5124+17G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.5193+17G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5172+17G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.5124+17G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.5247+17G>C
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

17-48695312-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695312
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695312
    reference: chr 17
allele count: 7
allele frequency: 5.83683543459409e-5
allele num: 119928
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5172+22T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.5193+22T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.5226+22T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.5157+22T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.5157+22T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5136+43T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.5193+22T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.5103+22T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.5226+22T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.5172+22T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.5151+43T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.5193+22T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.5226+22T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.5055+22T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5091+22T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5124+22T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.5124+22T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.5226+22T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.5226+22T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.5124+22T>C
  variant of: http://identifiers.org/hgnc/1394
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: T
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

17-48695316-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695316
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695316
    reference: chr 17
allele count: 1
allele frequency: 8.337224037884346e-6
allele num: 119944
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.5193+26G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.5124+26G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.5193+26G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.5157+26G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.5055+26G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.5151+47G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.5091+26G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5124+26G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.5226+26G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5136+47G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5172+26G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.5205+47G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.5103+26G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.5226+26G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.5070+26G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.5157+26G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.5124+26G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.5226+26G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.5247+26G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.5193+26G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.5226+26G>A
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

17-48695319-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695319
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695319
    reference: chr 17
allele count: 1
allele frequency: 8.338475393159114e-6
allele num: 119926
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.5124+29A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5136+50A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.5151+50A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5172+29A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.5055+29A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.5157+29A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.5226+29A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5124+29A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.5205+50A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.5226+29A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.5172+29A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.5124+29A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.5193+29A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.5124+29A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5091+29A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.5193+29A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.5226+29A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.5157+29A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.5070+29A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.5157+29A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.5193+29A>G
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

17-48695326-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695326
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695326
    reference: chr 17
allele count: 5
allele frequency: 4.165417041554201e-5
allele num: 120036
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.5103+36G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.5226+36G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.5157+36G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.5124+36G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.5055+36G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.5172+36G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.5193+36G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5124+36G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.5172+36G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.5247+36G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.5226+36G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5136+57G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5172+36G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.5193+36G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.5193+36G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.5070+36G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.5157+36G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5091+36G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.5124+36G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.5091+36G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.5193+36G>A
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

17-48695359-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695359
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695359
    reference: chr 17
allele count: 66
allele frequency: 5.522088353413654e-4
allele num: 119520
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.5157+69T>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.5056-50T>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.5227-50T>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5172+69T>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.5071-50T>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.5125-50T>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5125-50T>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.5194-50T>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5136+90T>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.5158-50T>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.5125-50T>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.5226+69T>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.5194-50T>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.5092-50T>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.5194-50T>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.5125-50T>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.5173-50T>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.5194-50T>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.5158-50T>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.5104-50T>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.5125-50T>G
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-48695363-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695363
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695363
    reference: chr 17
allele count: 14
allele frequency: 1.172077758987325e-4
allele num: 119446
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.5173-46T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.5056-46T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.5194-46T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.5227-46T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.5158-46T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.5103+73T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.5227-46T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.5227-46T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.5173-46T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.5206-46T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5092-46T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.5157+73T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.5125-46T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.5248-46T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.5152-46T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.5193+73T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.5125-46T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5136+94T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.5194-46T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.5071-46T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5125-46T>C
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-48695372-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695372
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695372
    reference: chr 17
allele count: 1
allele frequency: 8.393627557957998e-6
allele num: 119138
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.5158-37C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.5152-37C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5125-37C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.5157+82C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5172+82C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.5194-37C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.5125-37C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.5226+82C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.5125-37C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.5194-37C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.5158-37C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.5227-37C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5137-86C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.5056-37C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.5173-37C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.5125-37C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.5227-37C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.5104-37C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.5227-37C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.5227-37C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.5248-37C>A
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/17-48695375-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695375
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695375
    reference: chr 17
allele count: 1
allele frequency: 8.405904307185366e-6
allele num: 118964
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.5227-34C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.5071-34C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.5158-34C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.5125-34C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.5248-34C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.5125-34C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.5227-34C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.5125-34C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5125-34C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.5104-34C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5137-83C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.5173-34C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.5206-34C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5173-83C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.5125-34C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.5158-34C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.5227-34C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.5194-34C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5092-34C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.5152-34C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.5104-83C>A
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum

17-48695375-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695375
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695375
    reference: chr 17
allele count: 11
allele frequency: 9.246494737903904e-5
allele num: 118964
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5137-83C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.5227-34C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5173-83C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.5158-34C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5092-34C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.5152-34C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.5158-34C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.5227-34C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.5104-83C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.5248-34C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.5056-34C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.5158-83C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5125-34C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.5104-34C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.5194-34C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.5092-34C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.5125-34C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.5125-34C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.5173-34C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.5194-83C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.5227-34C>T
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-48695376-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695376
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695376
    reference: chr 17
allele count: 2
allele frequency: 1.680079299742948e-5
allele num: 119042
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.5194-33G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.5071-33G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.5173-33G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.5125-33G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.5227-33G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.5194-33G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.5125-33G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.5194-33G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.5125-33G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.5227-82G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.5206-33G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.5248-33G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5137-82G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.5125-33G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5173-82G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.5152-33G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5125-33G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5092-33G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.5104-82G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.5104-33G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.5227-33G>A
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum

17-48695382-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695382
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695382
    reference: chr 17
allele count: 4
allele frequency: 3.360045696621474e-5
allele num: 119046
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.5194-27G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5092-27G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.5152-27G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.5104-76G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.5104-27G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.5056-27G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5125-27G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.5158-27G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.5071-27G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.5173-27G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.5194-76G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.5227-76G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.5194-27G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5173-76G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.5248-27G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.5227-27G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5137-76G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.5173-27G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.5125-27G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.5227-27G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.5194-27G>A
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

17-48695387-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695387
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695387
    reference: chr 17
allele count: 3
allele frequency: 2.518088267387399e-5
allele num: 119138
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5173-71T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5137-71T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.5125-22T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.5158-22T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.5194-22T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.5125-22T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.5158-22T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.5056-22T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.5194-22T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.5173-22T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.5158-71T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.5206-22T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.5227-22T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.5227-22T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.5173-22T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.5248-22T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5125-22T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.5194-22T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5092-22T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.5092-22T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.5194-71T>C
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

17-48695388-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695388
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695388
    reference: chr 17
allele count: 1
allele frequency: 8.392500461587526e-6
allele num: 119154
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.5056-21A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.5194-21A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.5104-21A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.5227-21A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.5158-21A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.5194-70A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5092-21A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5137-70A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.5104-70A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.5152-21A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5173-70A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.5125-21A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5125-21A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.5071-21A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.5194-21A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.5248-21A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.5125-21A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.5227-21A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.5158-70A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.5092-21A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.5173-21A>G
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

17-48695397-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695397
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695397
    reference: chr 17
allele count: 136
allele frequency: 1.140748196611307e-3
allele num: 119220
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.5194-12C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.5104-61C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.5125-12C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.5158-61C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.5194-12C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5092-12C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.5158-12C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5137-61C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.5227-12C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5173-61C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.5227-12C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.5173-12C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.5194-12C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.5092-12C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.5194-61C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5125-12C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.5227-12C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.5152-12C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.5071-12C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.5206-12C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.5104-12C>T
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 1
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

17-48695398-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695398
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695399
    reference: chr 17
allele count: 1
allele frequency: 8.402937667008386e-6
allele num: 119006
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.5125-5dupT
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5125-5dupT
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.5104-5dupT
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.5158-5dupT
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.5227-54dupT
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.5152-5dupT
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.5194-5dupT
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.5227-5dupT
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5137-54dupT
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.5158-5dupT
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.5194-54dupT
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.5125-5dupT
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.5158-54dupT
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.5227-5dupT
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.5173-5dupT
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5173-54dupT
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.5194-5dupT
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.5125-5dupT
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.5125-5dupT
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.5173-5dupT
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.5248-5dupT
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

17-48695420-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695420
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695420
    reference: chr 17
allele count: 1
allele frequency: 8.357011532675915e-6
allele num: 119660
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5136G>C
  hgvsp: ENST00000358244.5:c.5136G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.5082G>C
  hgvsp: ENST00000510366.1:c.5082G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.5158-38G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.5205G>C
  hgvsp: ENST00000507336.1:c.5205G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.5067G>C
  hgvsp: ENST00000514717.1:c.5067G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.5238G>C
  hgvsp: ENST00000507510.2:c.5238G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5103G>C
  hgvsp: ENST00000513689.2:c.5103G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.5163G>C
  hgvsp: ENST00000514181.1:c.5163G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.5184G>C
  hgvsp: ENST00000515411.1:c.5184G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.5184G>C
  hgvsp: ENST00000429973.2:c.5184G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.5205G>C
  hgvsp: ENST00000515765.1:c.5205G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.5103G>C
  hgvsp: ENST00000513964.1:c.5103G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.5227-38G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.5217G>C
  hgvsp: ENST00000507609.1:c.5217G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.5238G>C
  hgvsp: ENST00000515165.1:c.5238G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.5136G>C
  hgvsp: ENST00000354983.4:c.5136G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.5136G>C
  hgvsp: ENST00000352832.5:c.5136G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.5136G>C
  hgvsp: ENST00000503485.1:c.5136G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.5205G>C
  hgvsp: ENST00000507896.1:c.5205G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu1746Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-48695433-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695433
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695433
    reference: chr 17
allele count: 2
allele frequency: 1.667500416875104e-5
allele num: 119940
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.5197A>C
  hgvsp: ENSP00000414388.2:p.Met1733Leu
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.5251A>C
  hgvsp: ENSP00000352011.5:p.Met1751Leu
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.5095A>C
  hgvsp: ENSP00000426814.1:p.Met1699Leu
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.5149A>C
  hgvsp: ENSP00000347078.4:p.Met1717Leu
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5149A>C
  hgvsp: ENSP00000350979.5:p.Met1717Leu
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.5227-25A>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.5149A>C
  hgvsp: ENSP00000339302.5:p.Met1717Leu
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.5251A>C
  hgvsp: ENSP00000426098.1:p.Met1751Leu
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.5182A>C
  hgvsp: ENSP00000425522.1:p.Met1728Leu
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.5116A>C
  hgvsp: ENSP00000425451.1:p.Met1706Leu
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.5197A>C
  hgvsp: ENSP00000423155.1:p.Met1733Leu
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.5080A>C
  hgvsp: ENSP00000422407.1:p.Met1694Leu
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.5149A>C
  hgvsp: ENSP00000427238.1:p.Met1717Leu
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.5230A>C
  hgvsp: ENSP00000423045.1:p.Met1744Leu
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.5176A>C
  hgvsp: ENSP00000425698.1:p.Met1726Leu
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.5182A>C
  hgvsp: ENSP00000353990.4:p.Met1728Leu
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5116A>C
  hgvsp: ENSP00000426172.2:p.Met1706Leu
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.5104-25A>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.5218A>C
  hgvsp: ENSP00000421518.1:p.Met1740Leu
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Met1751Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

17-48695433-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695433
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695433
    reference: chr 17
allele count: 1
allele frequency: 8.337502084375522e-6
allele num: 119940
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5137-25A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.5251A>G
  hgvsp: ENSP00000423112.2:p.Met1751Val
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.5218A>G
  hgvsp: ENSP00000420918.1:p.Met1740Val
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5116A>G
  hgvsp: ENSP00000426172.2:p.Met1706Val
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.5218A>G
  hgvsp: ENSP00000426232.1:p.Met1740Val
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.5182A>G
  hgvsp: ENSP00000353990.4:p.Met1728Val
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.5272A>G
  hgvsp: ENSP00000423317.1:p.Met1758Val
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.5095A>G
  hgvsp: ENSP00000426814.1:p.Met1699Val
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.5251A>G
  hgvsp: ENSP00000426098.1:p.Met1751Val
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.5230A>G
  hgvsp: ENSP00000423045.1:p.Met1744Val
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.5176A>G
  hgvsp: ENSP00000425698.1:p.Met1726Val
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.5149A>G
  hgvsp: ENSP00000347078.4:p.Met1717Val
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.5197A>G
  hgvsp: ENSP00000414388.2:p.Met1733Val
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.5197A>G
  hgvsp: ENSP00000423155.1:p.Met1733Val
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.5251A>G
  hgvsp: ENSP00000422268.1:p.Met1751Val
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.5080A>G
  hgvsp: ENSP00000422407.1:p.Met1694Val
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5149A>G
  hgvsp: ENSP00000350979.5:p.Met1717Val
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.5251A>G
  hgvsp: ENSP00000352011.5:p.Met1751Val
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.5116A>G
  hgvsp: ENSP00000425451.1:p.Met1706Val
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Met1751Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

17-48695434-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695434
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695434
    reference: chr 17
allele count: 1
allele frequency: 8.335000333400014e-6
allele num: 119976
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.5096T>C
  hgvsp: ENSP00000426814.1:p.Met1699Thr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.5104-24T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.5150T>C
  hgvsp: ENSP00000427238.1:p.Met1717Thr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.5117T>C
  hgvsp: ENSP00000425451.1:p.Met1706Thr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5173-24T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.5231T>C
  hgvsp: ENSP00000423045.1:p.Met1744Thr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.5150T>C
  hgvsp: ENSP00000427173.1:p.Met1717Thr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.5150T>C
  hgvsp: ENSP00000347078.4:p.Met1717Thr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.5219T>C
  hgvsp: ENSP00000421518.1:p.Met1740Thr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.5252T>C
  hgvsp: ENSP00000352011.5:p.Met1751Thr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.5177T>C
  hgvsp: ENSP00000425698.1:p.Met1726Thr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.5158-24T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.5198T>C
  hgvsp: ENSP00000414388.2:p.Met1733Thr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.5183T>C
  hgvsp: ENSP00000425522.1:p.Met1728Thr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.5252T>C
  hgvsp: ENSP00000426098.1:p.Met1751Thr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5117T>C
  hgvsp: ENSP00000426172.2:p.Met1706Thr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5150T>C
  hgvsp: ENSP00000350979.5:p.Met1717Thr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.5252T>C
  hgvsp: ENSP00000423112.2:p.Met1751Thr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.5219T>C
  hgvsp: ENSP00000426232.1:p.Met1740Thr
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Met1751Thr
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

17-48695465-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695465
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695465
    reference: chr 17
allele count: 6
allele frequency: 4.987779939149085e-5
allele num: 120294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.5262C>T
  hgvsp: ENST00000507609.1:c.5262C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.5127C>T
  hgvsp: ENST00000510366.1:c.5127C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.5283C>T
  hgvsp: ENST00000515165.1:c.5283C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.5283C>T
  hgvsp: ENST00000507510.2:c.5283C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.5165C>T
  hgvsp: ENSP00000427231.1:p.Ala1722Val
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.5111C>T
  hgvsp: ENSP00000426558.1:p.Ala1704Val
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.5181C>T
  hgvsp: ENST00000354983.4:c.5181C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.5250C>T
  hgvsp: ENST00000507896.1:c.5250C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.5304C>T
  hgvsp: ENST00000514079.1:c.5304C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.5181C>T
  hgvsp: ENST00000352832.5:c.5181C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.5250C>T
  hgvsp: ENST00000512389.1:c.5250C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.5112C>T
  hgvsp: ENST00000514717.1:c.5112C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.5234C>T
  hgvsp: ENSP00000426313.1:p.Ala1745Val
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.5214C>T
  hgvsp: ENST00000502264.1:c.5214C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5148C>T
  hgvsp: ENST00000513689.2:c.5148C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5181C>T
  hgvsp: ENST00000358244.5:c.5181C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5180C>T
  hgvsp: ENSP00000427247.1:p.Ala1727Val
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.5181C>T
  hgvsp: ENST00000503485.1:c.5181C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.5201C>T
  hgvsp: ENSP00000425153.1:p.Ala1734Val
  variant of: http://identifiers.org/hgnc/1394
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala1722Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

17-48695491-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695491
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695491
    reference: chr 17
allele count: 3
allele frequency: 2.493724127612176e-5
allele num: 120302
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.5256+4A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.5203+4A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.5272+4A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.5230+4A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.5305+4A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.5305+4A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.5223+4A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.5272+4A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5166+4A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.5182+4A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5203+4A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.5203+4A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5170+4A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.5251+4A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.5203+4A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.5133+4A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.5305+4A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5202+4A>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.5305+4A>G
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.5305+4A>G
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

17-48695502-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695502
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695502
    reference: chr 17
allele count: 1
allele frequency: 8.315178526882972e-6
allele num: 120262
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.5272+15G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.5203+15G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.5236+15G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.5272+15G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.5170+15G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.5187+15G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.5305+15G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.5272+15G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5170+15G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.5251+15G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5166+15G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.5305+15G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.5203+15G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.5203+15G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.5230+15G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.5326+15G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.5149+15G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.5284+15G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.5133+15G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5202+15G>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5203+15G>A
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

17-48695506-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695506
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695506
    reference: chr 17
allele count: 2
allele frequency: 1.662786830728301e-5
allele num: 120280
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.5203+19G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.5326+19G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5166+19G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5170+19G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.5170+19G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5202+19G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.5272+19G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.5305+19G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.5305+19G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.5230+19G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5203+19G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.5223+19G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.5272+19G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.5187+19G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.5203+19G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.5251+19G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.5305+19G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.5236+19G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.5133+19G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.5203+19G>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.5134+19G>C
  variant of: http://identifiers.org/hgnc/1394
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: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP

17-48695511-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695511
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695511
    reference: chr 17
allele count: 1
allele frequency: 8.316976612661764e-6
allele num: 120236
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.5182+24G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.5134+24G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.5133+24G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.5230+24G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.5305+24G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.5203+24G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.5170+24G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.5187+24G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.5236+24G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.5305+24G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.5305+24G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.5203+24G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5203+24G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5166+24G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5202+24G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.5284+24G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.5149+24G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.5305+24G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5170+24G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.5251+24G>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.5272+24G>T
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/17-48695517-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695517
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695517
    reference: chr 17
allele count: 1
allele frequency: 8.321821480285606e-6
allele num: 120166
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.5203+30C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.5251+30C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.5149+30C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.5203+30C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.5251+30C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.5203+30C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.5272+30C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.5272+30C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.5305+30C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5170+30C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5203+30C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.5223+30C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.5272+30C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.5305+30C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.5256+30C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.5236+30C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5202+30C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.5187+30C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5166+30C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.5284+30C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.5230+30C>A
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-48695518-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695518
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695518
    reference: chr 17
allele count: 1
allele frequency: 8.320852055250457e-6
allele num: 120180
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.5284+31C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5203+31C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.5134+31C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.5203+31C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.5203+31C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5170+31C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5202+31C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5166+31C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.5251+31C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.5203+31C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.5182+31C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.5203+31C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.5305+31C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.5187+31C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.5133+31C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.5149+31C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.5305+31C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.5230+31C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.5256+31C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.5305+31C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.5272+31C>T
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

17-48695541-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695541
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695541
    reference: chr 17
allele count: 2
allele frequency: 1.663284654535777e-5
allele num: 120244
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.5273-42C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.5204-42C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5171-42C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.5231-42C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.5252-42C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.5204-42C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.5135-42C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.5237-42C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.5252-42C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.5306-42C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.5237-42C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.5306-42C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5203-42C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.5306-42C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.5273-42C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.5183-42C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.5188-42C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5204-42C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.5171-42C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.5134-42C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.5224-42C>G
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

17-48695547-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695547
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695547
    reference: chr 17
allele count: 33
allele frequency: 2.743370188710616e-4
allele num: 120290
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.5237-36T>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5171-36T>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.5224-36T>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.5252-36T>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.5135-36T>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.5183-36T>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.5237-36T>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5167-36T>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5204-36T>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.5273-36T>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.5150-36T>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.5273-36T>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.5204-36T>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.5171-36T>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.5204-36T>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.5231-36T>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.5204-36T>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5203-36T>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.5285-36T>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.5306-36T>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.5306-36T>A
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 1
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ

17-48695552-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695552
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695552
    reference: chr 17
allele count: 1
allele frequency: 8.311861025683651e-6
allele num: 120310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5204-31T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.5204-31T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.5171-31T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5203-31T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5167-31T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.5306-31T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.5306-31T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.5273-31T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.5183-31T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.5306-31T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.5204-31T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.5273-31T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.5257-31T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.5204-31T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5171-31T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.5273-31T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.5188-31T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.5252-31T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.5273-31T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.5237-31T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.5237-31T>C
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD

17-48695557-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695557
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695557
    reference: chr 17
allele count: 1
allele frequency: 8.308960382876895e-6
allele num: 120352
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.5306-26C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.5273-26C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.5273-26C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.5273-26C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.5204-26C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5167-26C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.5285-26C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.5135-26C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.5204-26C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.5306-26C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.5231-26C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.5150-26C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5204-26C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5171-26C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.5237-26C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5203-26C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.5273-26C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.5188-26C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.5252-26C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.5306-26C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.5134-26C>G
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
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: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

17-48695558-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695558
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695558
    reference: chr 17
allele count: 1
allele frequency: 8.306475728477921e-6
allele num: 120388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5203-25T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.5204-25T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.5273-25T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5167-25T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.5252-25T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.5134-25T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5204-25T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.5183-25T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.5231-25T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.5306-25T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.5273-25T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.5237-25T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.5204-25T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.5257-25T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.5224-25T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.5285-25T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.5306-25T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.5306-25T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.5135-25T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.5273-25T>C
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.5306-25T>C
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-48695561-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695561
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695561
    reference: chr 17
allele count: 5
allele frequency: 4.152203158996163e-5
allele num: 120418
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.5204-22C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.5306-22C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.5306-22C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.5252-22C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.5252-22C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5171-22C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5167-22C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.5183-22C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.5237-22C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.5306-22C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.5171-22C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.5135-22C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.5327-22C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.5237-22C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5204-22C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.5231-22C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.5273-22C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.5224-22C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5203-22C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.5285-22C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.5188-22C>A
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/17-48695562-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695562
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695562
    reference: chr 17
allele count: 1
allele frequency: 8.304820117596252e-6
allele num: 120412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5203-21C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.5171-21C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.5150-21C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5167-21C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.5306-21C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.5306-21C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.5306-21C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.5257-21C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.5204-21C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.5204-21C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.5231-21C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.5188-21C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5171-21C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.5252-21C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.5204-21C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.5204-21C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5204-21C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.5273-21C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.5252-21C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.5285-21C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.5237-21C>A
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

17-48695564-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695564
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695564
    reference: chr 17
allele count: 1
allele frequency: 8.30137304710199e-6
allele num: 120462
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.5306-19C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.5231-19C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5171-19C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.5183-19C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.5204-19C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.5237-19C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.5150-19C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.5224-19C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.5306-19C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.5204-19C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.5306-19C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5203-19C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.5306-19C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.5252-19C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.5273-19C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.5273-19C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.5204-19C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5204-19C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5167-19C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.5171-19C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.5237-19C>T
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

17-48695565-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695565
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695565
    reference: chr 17
allele count: 5
allele frequency: 4.150548702538475e-5
allele num: 120466
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.5171-18C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.5237-18C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5171-18C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.5273-18C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.5306-18C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.5306-18C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.5188-18C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.5257-18C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.5134-18C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5204-18C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.5306-18C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.5183-18C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.5204-18C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.5231-18C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.5273-18C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.5237-18C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.5306-18C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.5204-18C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.5252-18C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5203-18C>G
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.5285-18C>G
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ

17-48695570-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695570
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695570
    reference: chr 17
allele count: 1
allele frequency: 8.300546175938376e-6
allele num: 120474
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.5252-13C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5167-13C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.5237-13C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.5273-13C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.5171-13C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.5306-13C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.5135-13C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.5273-13C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5204-13C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.5327-13C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.5231-13C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.5306-13C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.5204-13C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.5273-13C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.5183-13C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.5285-13C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5171-13C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5203-13C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.5134-13C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.5252-13C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.5204-13C>T
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/17-48695574-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695574
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695574
    reference: chr 17
allele count: 1
allele frequency: 8.300959590928711e-6
allele num: 120468
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.5306-9C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.5306-9C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.5273-9C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.5306-9C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.5252-9C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5203-9C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.5183-9C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.5273-9C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.5204-9C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.5188-9C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.5134-9C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5167-9C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.5257-9C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.5204-9C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.5204-9C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.5135-9C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.5231-9C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.5327-9C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.5237-9C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.5306-9C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.5273-9C>A
  variant of: http://identifiers.org/hgnc/1394
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: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

17-48695576-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695576
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695576
    reference: chr 17
allele count: 1
allele frequency: 8.298617450332775e-6
allele num: 120502
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.5188-7C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.5327-7C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.5306-7C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5204-7C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.5204-7C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5167-7C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.5204-7C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.5204-7C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.5285-7C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.5252-7C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.5231-7C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5203-7C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.5204-7C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.5306-7C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.5134-7C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.5273-7C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.5150-7C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.5237-7C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.5171-7C>T
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.5306-7C>T
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

17-48695578-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695578
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695578
    reference: chr 17
allele count: 1
allele frequency: 8.298617450332775e-6
allele num: 120502
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.5204-5C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.5188-5C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.5150-5C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.5237-5C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5171-5C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.5237-5C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.5204-5C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.5171-5C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.5135-5C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.5306-5C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.5204-5C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.5252-5C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.5231-5C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.5273-5C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5167-5C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.5306-5C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5204-5C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.5252-5C>T
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.5306-5C>T
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.5306-5C>T
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/17-48695580-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695580
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695580
    reference: chr 17
allele count: 4
allele frequency: 3.318896135145451e-5
allele num: 120522
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5167-3C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5171-3C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.5231-3C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.5306-3C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5204-3C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.5285-3C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.5252-3C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.5171-3C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.5237-3C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.5237-3C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.5306-3C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.5257-3C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.5134-3C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.5188-3C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.5204-3C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.5204-3C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5203-3C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.5204-3C>A
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.5183-3C>A
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.5306-3C>A
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

17-48695583-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695583
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695583
    reference: chr 17
allele count: 1
allele frequency: 8.295588406085643e-6
allele num: 120546
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.5188A>G
  hgvsp: ENSP00000427231.1:p.Ser1730Gly
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.5327A>G
  hgvsp: ENSP00000423317.1:p.Glu1776Gly
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.5204A>G
  hgvsp: ENSP00000339302.5:p.Glu1735Gly
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.5150A>G
  hgvsp: ENSP00000426814.1:p.Glu1717Gly
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.5204A>G
  hgvsp: ENSP00000347078.4:p.Glu1735Gly
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.5257A>G
  hgvsp: ENSP00000426313.1:p.Ser1753Gly
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5167A>G
  hgvsp: ENSP00000424664.1:p.Ser1723Gly
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.5306A>G
  hgvsp: ENSP00000423112.2:p.Glu1769Gly
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.5224A>G
  hgvsp: ENSP00000425153.1:p.Ser1742Gly
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.5204A>G
  hgvsp: ENSP00000427173.1:p.Glu1735Gly
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.5183A>G
  hgvsp: ENSP00000409759.2:p.Glu1728Gly
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.5306A>G
  hgvsp: ENSP00000426098.1:p.Glu1769Gly
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.5237A>G
  hgvsp: ENSP00000353990.4:p.Glu1746Gly
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.5306A>G
  hgvsp: ENSP00000352011.5:p.Glu1769Gly
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.5135A>G
  hgvsp: ENSP00000422407.1:p.Glu1712Gly
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426232
  ensembl transcript: ENST00000515765
  gene symbol: CACNA1G
  hgvsc: ENST00000515765.1:c.5273A>G
  hgvsp: ENSP00000426232.1:p.Glu1758Gly
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.5231A>G
  hgvsp: ENSP00000425698.1:p.Glu1744Gly
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu1769Gly
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum

17-48695584-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695584
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695584
    reference: chr 17
allele count: 136
allele frequency: 1.128200023227647e-3
allele num: 120546
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5168G>A
  hgvsp: ENSP00000424664.1:p.Ser1723Asn
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.5205G>A
  hgvsp: ENST00000503485.1:c.5205G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.5232G>A
  hgvsp: ENST00000514181.1:c.5232G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.5189G>A
  hgvsp: ENSP00000427231.1:p.Ser1730Asn
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.5307G>A
  hgvsp: ENST00000507510.2:c.5307G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.5205G>A
  hgvsp: ENST00000354983.4:c.5205G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.5307G>A
  hgvsp: ENST00000505165.1:c.5307G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.5274G>A
  hgvsp: ENST00000507336.1:c.5274G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.5258G>A
  hgvsp: ENSP00000426313.1:p.Ser1753Asn
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.5238G>A
  hgvsp: ENST00000502264.1:c.5238G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.5205G>A
  hgvsp: ENST00000510115.1:c.5205G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5172G>A
  hgvsp: ENST00000513689.2:c.5172G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5204G>A
  hgvsp: ENSP00000427247.1:p.Ser1735Asn
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.5172G>A
  hgvsp: ENST00000513964.1:c.5172G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.5136G>A
  hgvsp: ENST00000514717.1:c.5136G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.5135G>A
  hgvsp: ENSP00000426558.1:p.Ser1712Asn
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000339302
  ensembl transcript: ENST00000352832
  gene symbol: CACNA1G
  hgvsc: ENST00000352832.5:c.5205G>A
  hgvsp: ENST00000352832.5:c.5205G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser1730Asn
num of homozygotes: 1
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP

17-48695590-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695590
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695590
    reference: chr 17
allele count: 2
allele frequency: 1.658814942605003e-5
allele num: 120568
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5178C>T
  hgvsp: ENST00000513689.2:c.5178C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5210C>T
  hgvsp: ENSP00000427247.1:p.Thr1737Met
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.5195C>T
  hgvsp: ENSP00000427231.1:p.Thr1732Met
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.5313C>T
  hgvsp: ENST00000505165.1:c.5313C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.5211C>T
  hgvsp: ENST00000354983.4:c.5211C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425698
  ensembl transcript: ENST00000514181
  gene symbol: CACNA1G
  hgvsc: ENST00000514181.1:c.5238C>T
  hgvsp: ENST00000514181.1:c.5238C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.5244C>T
  hgvsp: ENST00000360761.4:c.5244C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.5313C>T
  hgvsp: ENST00000507510.2:c.5313C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5174C>T
  hgvsp: ENSP00000424664.1:p.Thr1725Met
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.5259C>T
  hgvsp: ENST00000515411.1:c.5259C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.5244C>T
  hgvsp: ENST00000502264.1:c.5244C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.5280C>T
  hgvsp: ENST00000507896.1:c.5280C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.5157C>T
  hgvsp: ENST00000510366.1:c.5157C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.5264C>T
  hgvsp: ENSP00000426313.1:p.Thr1755Met
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.5231C>T
  hgvsp: ENSP00000425153.1:p.Thr1744Met
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.5141C>T
  hgvsp: ENSP00000426558.1:p.Thr1714Met
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.5334C>T
  hgvsp: ENST00000514079.1:c.5334C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.5280C>T
  hgvsp: ENST00000512389.1:c.5280C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr1732Met
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-48695593-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695593
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695593
    reference: chr 17
allele count: 1
allele frequency: 8.292699107705576e-6
allele num: 120588
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.5214G>A
  hgvsp: ENST00000503485.1:c.5214G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.5145G>A
  hgvsp: ENST00000514717.1:c.5145G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.5316G>A
  hgvsp: ENST00000505165.1:c.5316G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.5337G>A
  hgvsp: ENST00000514079.1:c.5337G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.5267G>A
  hgvsp: ENSP00000426313.1:p.Arg1756Lys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5213G>A
  hgvsp: ENSP00000427247.1:p.Arg1738Lys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.5283G>A
  hgvsp: ENST00000507896.1:c.5283G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.5234G>A
  hgvsp: ENSP00000425153.1:p.Arg1745Lys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.5262G>A
  hgvsp: ENST00000429973.2:c.5262G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.5193G>A
  hgvsp: ENST00000442258.2:c.5193G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5181G>A
  hgvsp: ENST00000513689.2:c.5181G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.5295G>A
  hgvsp: ENST00000507609.1:c.5295G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5177G>A
  hgvsp: ENSP00000424664.1:p.Arg1726Lys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.5247G>A
  hgvsp: ENST00000502264.1:c.5247G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.5160G>A
  hgvsp: ENST00000510366.1:c.5160G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.5144G>A
  hgvsp: ENSP00000426558.1:p.Arg1715Lys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.5198G>A
  hgvsp: ENSP00000427231.1:p.Arg1733Lys
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.5283G>A
  hgvsp: ENST00000507336.1:c.5283G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg1733Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD

17-48695593-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695593
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695593
    reference: chr 17
allele count: 1
allele frequency: 8.292699107705576e-6
allele num: 120588
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.5145G>C
  hgvsp: ENSP00000422407.1:p.Glu1715Asp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.5337G>C
  hgvsp: ENSP00000423317.1:p.Glu1779Asp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5177G>C
  hgvsp: ENSP00000424664.1:p.Arg1726Thr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5214G>C
  hgvsp: ENSP00000350979.5:p.Glu1738Asp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.5267G>C
  hgvsp: ENSP00000426313.1:p.Arg1756Thr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.5262G>C
  hgvsp: ENSP00000414388.2:p.Glu1754Asp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.5262G>C
  hgvsp: ENSP00000423155.1:p.Glu1754Asp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.5193G>C
  hgvsp: ENSP00000409759.2:p.Glu1731Asp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.5283G>C
  hgvsp: ENSP00000420918.1:p.Glu1761Asp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.5316G>C
  hgvsp: ENSP00000422268.1:p.Glu1772Asp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.5316G>C
  hgvsp: ENSP00000352011.5:p.Glu1772Asp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.5316G>C
  hgvsp: ENSP00000423112.2:p.Glu1772Asp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.5181G>C
  hgvsp: ENSP00000425451.1:p.Glu1727Asp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427238
  ensembl transcript: ENST00000503485
  gene symbol: CACNA1G
  hgvsc: ENST00000503485.1:c.5214G>C
  hgvsp: ENSP00000427238.1:p.Glu1738Asp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427173
  ensembl transcript: ENST00000510115
  gene symbol: CACNA1G
  hgvsc: ENST00000510115.1:c.5214G>C
  hgvsp: ENSP00000427173.1:p.Glu1738Asp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.5198G>C
  hgvsp: ENSP00000427231.1:p.Arg1733Thr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.5247G>C
  hgvsp: ENSP00000353990.4:p.Glu1749Asp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.5234G>C
  hgvsp: ENSP00000425153.1:p.Arg1745Thr
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5213G>C
  hgvsp: ENSP00000427247.1:p.Arg1738Thr
  variant of: http://identifiers.org/hgnc/1394
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu1772Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP

17-48695602-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695602
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695602
    reference: chr 17
allele count: 1
allele frequency: 8.291048983517394e-6
allele num: 120612
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.5190C>T
  hgvsp: ENST00000513964.1:c.5190C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.5304C>T
  hgvsp: ENST00000507609.1:c.5304C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.5325C>T
  hgvsp: ENST00000507510.2:c.5325C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5222C>T
  hgvsp: ENSP00000427247.1:p.Pro1741Leu
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.5292C>T
  hgvsp: ENST00000507896.1:c.5292C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.5292C>T
  hgvsp: ENST00000507336.1:c.5292C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.5153C>T
  hgvsp: ENSP00000426558.1:p.Pro1718Leu
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5190C>T
  hgvsp: ENST00000513689.2:c.5190C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.5169C>T
  hgvsp: ENST00000510366.1:c.5169C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.5207C>T
  hgvsp: ENSP00000427231.1:p.Pro1736Leu
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.5223C>T
  hgvsp: ENST00000354983.4:c.5223C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.5325C>T
  hgvsp: ENST00000505165.1:c.5325C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.5202C>T
  hgvsp: ENST00000442258.2:c.5202C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5223C>T
  hgvsp: ENST00000358244.5:c.5223C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423155
  ensembl transcript: ENST00000515411
  gene symbol: CACNA1G
  hgvsc: ENST00000515411.1:c.5271C>T
  hgvsp: ENST00000515411.1:c.5271C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423317
  ensembl transcript: ENST00000514079
  gene symbol: CACNA1G
  hgvsc: ENST00000514079.1:c.5346C>T
  hgvsp: ENST00000514079.1:c.5346C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5186C>T
  hgvsp: ENSP00000424664.1:p.Pro1729Leu
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.5243C>T
  hgvsp: ENSP00000425153.1:p.Pro1748Leu
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422407
  ensembl transcript: ENST00000514717
  gene symbol: CACNA1G
  hgvsc: ENST00000514717.1:c.5154C>T
  hgvsp: ENST00000514717.1:c.5154C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro1736Leu
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP

17-48695614-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695614
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695614
    reference: chr 17
allele count: 2
allele frequency: 1.657769967839263e-5
allele num: 120644
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5202G>A
  hgvsp: ENST00000513689.2:c.5202G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000424664
  ensembl transcript: ENST00000511768
  gene symbol: CACNA1G
  hgvsc: ENST00000511768.1:c.5198G>A
  hgvsp: ENSP00000424664.1:p.Trp1733Ter
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426313
  ensembl transcript: ENST00000506406
  gene symbol: CACNA1G
  hgvsc: ENST00000506406.1:c.5288G>A
  hgvsp: ENSP00000426313.1:p.Trp1763Ter
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.5165G>A
  hgvsp: ENSP00000426558.1:p.Trp1722Ter
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423112
  ensembl transcript: ENST00000507510
  gene symbol: CACNA1G
  hgvsc: ENST00000507510.2:c.5337G>A
  hgvsp: ENST00000507510.2:c.5337G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425451
  ensembl transcript: ENST00000513964
  gene symbol: CACNA1G
  hgvsc: ENST00000513964.1:c.5202G>A
  hgvsp: ENST00000513964.1:c.5202G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000422268
  ensembl transcript: ENST00000505165
  gene symbol: CACNA1G
  hgvsc: ENST00000505165.1:c.5337G>A
  hgvsp: ENST00000505165.1:c.5337G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5235G>A
  hgvsp: ENST00000358244.5:c.5235G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.5181G>A
  hgvsp: ENST00000510366.1:c.5181G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000409759
  ensembl transcript: ENST00000442258
  gene symbol: CACNA1G
  hgvsc: ENST00000442258.2:c.5214G>A
  hgvsp: ENST00000442258.2:c.5214G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000420918
  ensembl transcript: ENST00000507336
  gene symbol: CACNA1G
  hgvsc: ENST00000507336.1:c.5304G>A
  hgvsp: ENST00000507336.1:c.5304G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426261
  ensembl transcript: ENST00000512389
  gene symbol: CACNA1G
  hgvsc: ENST00000512389.1:c.5304G>A
  hgvsp: ENST00000512389.1:c.5304G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000352011
  ensembl transcript: ENST00000359106
  gene symbol: CACNA1G
  hgvsc: ENST00000359106.5:c.5337G>A
  hgvsp: ENST00000359106.5:c.5337G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000421518
  ensembl transcript: ENST00000507896
  gene symbol: CACNA1G
  hgvsc: ENST00000507896.1:c.5304G>A
  hgvsp: ENST00000507896.1:c.5304G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.5268G>A
  hgvsp: ENST00000360761.4:c.5268G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000347078
  ensembl transcript: ENST00000354983
  gene symbol: CACNA1G
  hgvsc: ENST00000354983.4:c.5235G>A
  hgvsp: ENST00000354983.4:c.5235G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.5219G>A
  hgvsp: ENSP00000427231.1:p.Trp1740Ter
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.5255G>A
  hgvsp: ENSP00000425153.1:p.Trp1752Ter
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5234G>A
  hgvsp: ENSP00000427247.1:p.Trp1745Ter
  variant of: http://identifiers.org/hgnc/1394
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Trp1740Ter
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/17-48695617-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48695617
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48695617
    reference: chr 17
allele count: 4
allele frequency: 3.315100281783524e-5
allele num: 120660
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000423045
  ensembl transcript: ENST00000507609
  gene symbol: CACNA1G
  hgvsc: ENST00000507609.1:c.5319C>A
  hgvsp: ENST00000507609.1:c.5319C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426558
  ensembl transcript: ENST00000503607
  gene symbol: CACNA1G
  hgvsc: ENST00000503607.1:c.5168C>A
  hgvsp: ENSP00000426558.1:p.Ala1723Asp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425153
  ensembl transcript: ENST00000504076
  gene symbol: CACNA1G
  hgvsc: ENST00000504076.1:c.5258C>A
  hgvsp: ENSP00000425153.1:p.Ala1753Asp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426172
  ensembl transcript: ENST00000513689
  gene symbol: CACNA1G
  hgvsc: ENST00000513689.2:c.5205C>A
  hgvsp: ENST00000513689.2:c.5205C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000350979
  ensembl transcript: ENST00000358244
  gene symbol: CACNA1G
  hgvsc: ENST00000358244.5:c.5238C>A
  hgvsp: ENST00000358244.5:c.5238C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000414388
  ensembl transcript: ENST00000429973
  gene symbol: CACNA1G
  hgvsc: ENST00000429973.2:c.5286C>A
  hgvsp: ENST00000429973.2:c.5286C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000425522
  ensembl transcript: ENST00000502264
  gene symbol: CACNA1G
  hgvsc: ENST00000502264.1:c.5271C>A
  hgvsp: ENST00000502264.1:c.5271C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426814
  ensembl transcript: ENST00000510366
  gene symbol: CACNA1G
  hgvsc: ENST00000510366.1:c.5184C>A
  hgvsp: ENST00000510366.1:c.5184C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000426098
  ensembl transcript: ENST00000515165
  gene symbol: CACNA1G
  hgvsc: ENST00000515165.1:c.5340C>A
  hgvsp: ENST00000515165.1:c.5340C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000353990
  ensembl transcript: ENST00000360761
  gene symbol: CACNA1G
  hgvsc: ENST00000360761.4:c.5271C>A
  hgvsp: ENST00000360761.4:c.5271C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427231
  ensembl transcript: ENST00000503436
  gene symbol: CACNA1G
  hgvsc: ENST00000503436.1:c.5222C>A
  hgvsp: ENSP00000427231.1:p.Ala1741Asp
  variant of: http://identifiers.org/hgnc/1394
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006283
  ensembl protein: ENSP00000427247
  ensembl transcript: ENST00000511765
  gene symbol: CACNA1G
  hgvsc: ENST00000511765.1:c.5237C>A
  hgvsp: ENSP00000427247.1:p.Ala1746Asp
  variant of: http://identifiers.org/hgnc/1394
canonical: false
consequence: missense
filter: PASS
hgvs: p.Ala1741Asp
num of homozygotes: 0
reference allele: C

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.5193+5C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.5226+5C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.5157+5C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000339302
ensembl transcript: ENST00000352832
gene symbol: CACNA1G
hgvsc: ENST00000352832.5:c.5124+5C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.5226+5C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.5070+5C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.5124+5C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425451
ensembl transcript: ENST00000513964
gene symbol: CACNA1G
hgvsc: ENST00000513964.1:c.5091+5C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423112
ensembl transcript: ENST00000507510
gene symbol: CACNA1G
hgvsc: ENST00000507510.2:c.5226+5C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426098
ensembl transcript: ENST00000515165
gene symbol: CACNA1G
hgvsc: ENST00000515165.1:c.5226+5C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425698
ensembl transcript: ENST00000514181
gene symbol: CACNA1G
hgvsc: ENST00000514181.1:c.5151+26C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.5247+5C>T
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 91
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 97
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4561
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 234
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7426
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12139
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2725
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 6901
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11920
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 472
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 796
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 779
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9280
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 881
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1500
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2792
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5908
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10548
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3854
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4648
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3568
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4836
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21379
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66030
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9682
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.57e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.88e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 1.105e1

FS
type: SiteQuality
SIO_000300: 4.632e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-1

DP
type: SiteQuality
SIO_000300: 2.105618e6

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000409759
ensembl transcript: ENST00000442258
gene symbol: CACNA1G
hgvsc: ENST00000442258.2:c.5103+6C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425153
ensembl transcript: ENST00000504076
gene symbol: CACNA1G
hgvsc: ENST00000504076.1:c.5193+6C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.5226+6C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426098
ensembl transcript: ENST00000515165
gene symbol: CACNA1G
hgvsc: ENST00000515165.1:c.5226+6C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000420918
ensembl transcript: ENST00000507336
gene symbol: CACNA1G
hgvsc: ENST00000507336.1:c.5193+6C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425698
ensembl transcript: ENST00000514181
gene symbol: CACNA1G
hgvsc: ENST00000514181.1:c.5151+27C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000353990
ensembl transcript: ENST00000360761
gene symbol: CACNA1G
hgvsc: ENST00000360761.4:c.5157+6C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.5070+6C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.5226+6C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.5172+6C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.5247+6C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.5226+6C>T
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 75
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6903
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 895
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 328
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7395
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 472
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11925
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 799
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 12131
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 9269
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4561
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 797
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2727
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 234
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1500
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 139
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21381
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 367
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10479
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5911
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3853
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3572
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4655
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2795
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4838
bin: 7.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.161170459823502e-4
allele num: 8612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.059687926071807e-5
allele num: 66010
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

DP
type: SiteQuality
SIO_000300: 2.105119e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.64e-1

QD
type: SiteQuality
SIO_000300: 1.353e1

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.5157+7G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.5226+7G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.5247+7G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000339302
ensembl transcript: ENST00000352832
gene symbol: CACNA1G
hgvsc: ENST00000352832.5:c.5124+7G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425153
ensembl transcript: ENST00000504076
gene symbol: CACNA1G
hgvsc: ENST00000504076.1:c.5193+7G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425698
ensembl transcript: ENST00000514181
gene symbol: CACNA1G
hgvsc: ENST00000514181.1:c.5151+28G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.5205+28G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000424664
ensembl transcript: ENST00000511768
gene symbol: CACNA1G
hgvsc: ENST00000511768.1:c.5136+28G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.5124+7G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422407
ensembl transcript: ENST00000514717
gene symbol: CACNA1G
hgvsc: ENST00000514717.1:c.5055+7G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.5172+7G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.5193+7G>A
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 844
bin: 1.25e1
variant carriers: 4

GenotypeDepth
all individuals: 89
bin: 8.25e1
variant carriers: 14

GenotypeDepth
all individuals: 956
bin: 1.75e1
variant carriers: 4

GenotypeDepth
all individuals: 6890
bin: 4.25e1
variant carriers: 11

GenotypeDepth
all individuals: 104
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7302
bin: 2.25e1
variant carriers: 4

GenotypeDepth
all individuals: 323
bin: 7.5e0
variant carriers: 2

GenotypeDepth
all individuals: 2731
bin: 5.25e1
variant carriers: 19

GenotypeDepth
all individuals: 11900
bin: 2.75e1
variant carriers: 10

GenotypeDepth
all individuals: 806
bin: 6.25e1
variant carriers: 13

GenotypeDepth
all individuals: 58
bin: 8.75e1
variant carriers: 9

GenotypeDepth
all individuals: 4559
bin: 4.75e1
variant carriers: 14

GenotypeDepth
all individuals: 1508
bin: 5.75e1
variant carriers: 16

GenotypeDepth
all individuals: 9233
bin: 3.75e1
variant carriers: 6

GenotypeDepth
all individuals: 120
bin: 9.75e1
variant carriers: 30

GenotypeDepth
all individuals: 247
bin: 7.25e1
variant carriers: 15

GenotypeDepth
all individuals: 12066
bin: 3.25e1
variant carriers: 11

GenotypeDepth
all individuals: 480
bin: 6.75e1
variant carriers: 11

GenotypeDepth
all individuals: 43
bin: 9.25e1
variant carriers: 16

GenotypeDepth
all individuals: 153
bin: 7.75e1
variant carriers: 17

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

GenotypeQuality
all individuals: 43
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2785
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3556
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 381
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10067
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21494
bin: 9.75e1
variant carriers: 221

GenotypeQuality
all individuals: 4632
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 4814
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5852
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 399
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3837
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 196
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 6
allele frequency: 5.194805194805195e-4
allele num: 11550
num of homozygotes: 1

Other
type: Population
allele count: 2
allele frequency: 2.237136465324385e-3
allele num: 894
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.212268153715602e-4
allele num: 65992
num of homozygotes: 0

African
type: Population
allele count: 214
allele frequency: 2.210287130758108e-2
allele num: 9682
num of homozygotes: 5

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.17e-1

FS
type: SiteQuality
SIO_000300: 1.184e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.37e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.46e0

DP
type: SiteQuality
SIO_000300: 2.110338e6

QD
type: SiteQuality
SIO_000300: 1.434e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.19e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000350979
ensembl transcript: ENST00000358244
gene symbol: CACNA1G
hgvsc: ENST00000358244.5:c.5124+19dupG
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.5172+19dupG
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.5247+19dupG
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422407
ensembl transcript: ENST00000514717
gene symbol: CACNA1G
hgvsc: ENST00000514717.1:c.5055+19dupG
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000353990
ensembl transcript: ENST00000360761
gene symbol: CACNA1G
hgvsc: ENST00000360761.4:c.5157+19dupG
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427238
ensembl transcript: ENST00000503485
gene symbol: CACNA1G
hgvsc: ENST00000503485.1:c.5124+19dupG
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.5226+19dupG
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.5070+19dupG
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.5193+19dupG
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.5205+40dupG
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.5193+19dupG
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 94
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9263
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6906
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1506
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 2736
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11926
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 800
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 918
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4572
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12090
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 479
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 866
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 244
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 77
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7320
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4807
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10442
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3846
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 391
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3537
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4636
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 77
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 177
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2788
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21386
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 110
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5875
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.548624799102405e-5
allele num: 65954
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: 16476
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.068252326783868e-4
allele num: 9670
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.513e0

MQ
type: SiteQuality
SIO_000300: 6.007e1

DP
type: SiteQuality
SIO_000300: 2.1068e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

QD
type: SiteQuality
SIO_000300: 1.186e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.66e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.5172+14G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.5247+14G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.5070+14G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425153
ensembl transcript: ENST00000504076
gene symbol: CACNA1G
hgvsc: ENST00000504076.1:c.5193+14G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000339302
ensembl transcript: ENST00000352832
gene symbol: CACNA1G
hgvsc: ENST00000352832.5:c.5124+14G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425451
ensembl transcript: ENST00000513964
gene symbol: CACNA1G
hgvsc: ENST00000513964.1:c.5091+14G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.5172+14G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.5193+14G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426172
ensembl transcript: ENST00000513689
gene symbol: CACNA1G
hgvsc: ENST00000513689.2:c.5091+14G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.5193+14G>C
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 2743
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1508
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 801
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 857
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7305
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6912
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 297
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4570
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11930
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 479
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 904
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 242
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12112
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9268
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21395
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 98
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3557
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3858
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10606
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5943
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2790
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4648
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4826
bin: 7.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9686
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.027092477675193e-5
allele num: 66070
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 9.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

FS
type: SiteQuality
SIO_000300: 8.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.54e-1

QD
type: SiteQuality
SIO_000300: 1.209e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.573e0

MQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

DP
type: SiteQuality
SIO_000300: 2.107975e6

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427231
ensembl transcript: ENST00000503436
gene symbol: CACNA1G
hgvsc: ENST00000503436.1:c.5157+17G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.5226+17G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000409759
ensembl transcript: ENST00000442258
gene symbol: CACNA1G
hgvsc: ENST00000442258.2:c.5103+17G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000353990
ensembl transcript: ENST00000360761
gene symbol: CACNA1G
hgvsc: ENST00000360761.4:c.5157+17G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.5172+17G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.5124+17G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425153
ensembl transcript: ENST00000504076
gene symbol: CACNA1G
hgvsc: ENST00000504076.1:c.5193+17G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425451
ensembl transcript: ENST00000513964
gene symbol: CACNA1G
hgvsc: ENST00000513964.1:c.5091+17G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.5205+38G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422407
ensembl transcript: ENST00000514717
gene symbol: CACNA1G
hgvsc: ENST00000514717.1:c.5055+17G>C
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 141
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6912
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1506
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 50
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7226
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4570
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 963
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12116
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11920
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 301
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 894
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2742
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 242
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 478
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 802
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9254
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2792
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21399
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5870
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3567
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4830
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3858
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4651
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10378
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9708
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.662508662508663e-5
allele num: 11544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66084
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.084e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

QD
type: SiteQuality
SIO_000300: 2.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.04e0

FS
type: SiteQuality
SIO_000300: 5.844e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.102e0

MQRankSum
type: SiteQuality
SIO_000300: -2.93e-1

MQ
type: SiteQuality
SIO_000300: 5.868e1

VQSLOD
type: SiteQuality
SIO_000300: -5.304e0

DP
type: SiteQuality
SIO_000300: 2.106626e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.5070+22T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000409759
ensembl transcript: ENST00000442258
gene symbol: CACNA1G
hgvsc: ENST00000442258.2:c.5103+22T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.5193+22T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.5172+22T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427238
ensembl transcript: ENST00000503485
gene symbol: CACNA1G
hgvsc: ENST00000503485.1:c.5124+22T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.5205+43T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.5247+22T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.5193+22T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000339302
ensembl transcript: ENST00000352832
gene symbol: CACNA1G
hgvsc: ENST00000352832.5:c.5124+22T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425451
ensembl transcript: ENST00000513964
gene symbol: CACNA1G
hgvsc: ENST00000513964.1:c.5091+22T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.5157+22T>C
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 286
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 802
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9252
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 891
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 29
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11934
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 12101
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 978
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7208
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4571
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6929
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1508
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 242
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2745
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 478
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4654
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4835
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21403
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 358
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10480
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5877
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2796
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3569
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 412
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3855
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.030078285949732e-4
allele num: 9708
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.081827263645445e-5
allele num: 66066
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.872e1

MQRankSum
type: SiteQuality
SIO_000300: -2.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.12e-1

FS
type: SiteQuality
SIO_000300: 5.91e-1

QD
type: SiteQuality
SIO_000300: 1.371e1

DP
type: SiteQuality
SIO_000300: 2.107211e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.1e-2

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000409759
ensembl transcript: ENST00000442258
gene symbol: CACNA1G
hgvsc: ENST00000442258.2:c.5103+26G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425153
ensembl transcript: ENST00000504076
gene symbol: CACNA1G
hgvsc: ENST00000504076.1:c.5193+26G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.5226+26G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426172
ensembl transcript: ENST00000513689
gene symbol: CACNA1G
hgvsc: ENST00000513689.2:c.5091+26G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.5193+26G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427238
ensembl transcript: ENST00000503485
gene symbol: CACNA1G
hgvsc: ENST00000503485.1:c.5124+26G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.5157+26G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.5172+26G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.5124+26G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.5172+26G>A
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 802
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11852
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1101
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2747
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9247
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 479
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 50
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 242
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7209
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12070
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 286
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 893
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 29
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1507
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4573
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6918
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 739
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 26
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 420
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4645
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4833
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5841
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3588
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3852
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21400
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10143
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2791
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66088
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9712
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16144018583043e-4
allele num: 8610
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.793e0

MQRankSum
type: SiteQuality
SIO_000300: 5.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.156e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.119e0

QD
type: SiteQuality
SIO_000300: 1.249e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.43e0

MQ
type: SiteQuality
SIO_000300: 5.876e1

VQSLOD
type: SiteQuality
SIO_000300: -1.275e0

DP
type: SiteQuality
SIO_000300: 2.105956e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.5247+29A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.5226+29A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000409759
ensembl transcript: ENST00000442258
gene symbol: CACNA1G
hgvsc: ENST00000442258.2:c.5103+29A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.5226+29A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.5124+29A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.5103+29A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.5193+29A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425451
ensembl transcript: ENST00000513964
gene symbol: CACNA1G
hgvsc: ENST00000513964.1:c.5091+29A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000420918
ensembl transcript: ENST00000507336
gene symbol: CACNA1G
hgvsc: ENST00000507336.1:c.5193+29A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.5172+29A>G
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 7268
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 479
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 803
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1505
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 6931
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1078
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11868
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 837
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2748
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 242
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12069
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9243
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4576
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 245
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4837
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 407
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3850
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10314
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2796
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21400
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 267
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5848
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3587
bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9710
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
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: 0
allele frequency: 0.0e0
allele num: 66078
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.067961165048543e-5
allele num: 16480
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQRankSum
type: SiteQuality
SIO_000300: -1.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.83e0

DP
type: SiteQuality
SIO_000300: 2.107093e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.35e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

VQSLOD
type: SiteQuality
SIO_000300: -1.468e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425153
ensembl transcript: ENST00000504076
gene symbol: CACNA1G
hgvsc: ENST00000504076.1:c.5193+36G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.5226+36G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000347078
ensembl transcript: ENST00000354983
gene symbol: CACNA1G
hgvsc: ENST00000354983.4:c.5124+36G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.5103+36G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000339302
ensembl transcript: ENST00000352832
gene symbol: CACNA1G
hgvsc: ENST00000352832.5:c.5124+36G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.5205+57G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425698
ensembl transcript: ENST00000514181
gene symbol: CACNA1G
hgvsc: ENST00000514181.1:c.5151+57G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423112
ensembl transcript: ENST00000507510
gene symbol: CACNA1G
hgvsc: ENST00000507510.2:c.5226+36G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000353990
ensembl transcript: ENST00000360761
gene symbol: CACNA1G
hgvsc: ENST00000360761.4:c.5157+36G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.5226+36G>A
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 1192
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 50
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 804
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 143
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 253
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6963
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1510
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7328
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2747
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 11801
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 746
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12022
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 242
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4575
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9270
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 477
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3594
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4681
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5851
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10208
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21410
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 467
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4872
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2814
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3861
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.668515950069348e-5
allele num: 11536
num of homozygotes: 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: 1.027749229188078e-4
allele num: 9730
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.534187775829756e-5
allele num: 66164
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: 16490
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.417e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.88e-1

FS
type: SiteQuality
SIO_000300: 8.832000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.18e-1

DP
type: SiteQuality
SIO_000300: 2.108389e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.5227-50T>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423112
ensembl transcript: ENST00000507510
gene symbol: CACNA1G
hgvsc: ENST00000507510.2:c.5227-50T>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.5248-50T>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425153
ensembl transcript: ENST00000504076
gene symbol: CACNA1G
hgvsc: ENST00000504076.1:c.5193+69T>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.5206-50T>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425698
ensembl transcript: ENST00000514181
gene symbol: CACNA1G
hgvsc: ENST00000514181.1:c.5152-50T>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426098
ensembl transcript: ENST00000515165
gene symbol: CACNA1G
hgvsc: ENST00000515165.1:c.5227-50T>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.5103+69T>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426172
ensembl transcript: ENST00000513689
gene symbol: CACNA1G
hgvsc: ENST00000513689.2:c.5092-50T>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.5173-50T>G
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 4994
bin: 4.25e1
variant carriers: 9

GenotypeDepth
all individuals: 3006
bin: 4.75e1
variant carriers: 8

GenotypeDepth
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1803
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 671
bin: 6.25e1
variant carriers: 6

GenotypeDepth
all individuals: 7688
bin: 3.75e1
variant carriers: 12

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

GenotypeDepth
all individuals: 1000
bin: 5.75e1
variant carriers: 3

GenotypeDepth
all individuals: 411
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 12672
bin: 3.25e1
variant carriers: 5

GenotypeDepth
all individuals: 131
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1716
bin: 5.25e1
variant carriers: 8

GenotypeDepth
all individuals: 27
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16418
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 238
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6105
bin: 2.25e1
variant carriers: 5

GenotypeDepth
all individuals: 72
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2779
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 467
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 83
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 10578
bin: 9.75e1
variant carriers: 66

GenotypeQuality
all individuals: 8385
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 992
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4732
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1037
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1398
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 611
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 635
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17345
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4027
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 749
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2131
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2525
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3707
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 2.058036633052068e-4
allele num: 9718
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.252252252252252e-3
allele num: 888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.594629078315815e-5
allele num: 65836
num of homozygotes: 0

Latino
type: Population
allele count: 19
allele frequency: 1.655629139072848e-3
allele num: 11476
num of homozygotes: 0

East Asian
type: Population
allele count: 38
allele frequency: 4.463237021376556e-3
allele num: 8514
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 1.424e1

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e0

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.35e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.955434e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427247
ensembl transcript: ENST00000511765
gene symbol: CACNA1G
hgvsc: ENST00000511765.1:c.5172+73T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.5125-46T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.5194-46T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425451
ensembl transcript: ENST00000513964
gene symbol: CACNA1G
hgvsc: ENST00000513964.1:c.5092-46T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427238
ensembl transcript: ENST00000503485
gene symbol: CACNA1G
hgvsc: ENST00000503485.1:c.5125-46T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.5227-46T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.5158-46T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000409759
ensembl transcript: ENST00000442258
gene symbol: CACNA1G
hgvsc: ENST00000442258.2:c.5104-46T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.5226+73T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.5194-46T>C
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 238
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 131
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7651
bin: 3.75e1
variant carriers: 3

GenotypeDepth
all individuals: 3004
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3003
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 16253
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1708
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1860
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 81
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 486
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6269
bin: 2.25e1
variant carriers: 3

GenotypeDepth
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 410
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12456
bin: 3.25e1
variant carriers: 4

GenotypeDepth
all individuals: 4956
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 668
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1001
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1082
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2111
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1130
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4641
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3621
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1469
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 905
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8295
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3959
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10526
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 2508
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17624
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519987840097279e-5
allele num: 65790
num of homozygotes: 0

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

Latino
type: Population
allele count: 13
allele frequency: 1.132996339550288e-3
allele num: 11474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.2e-2

DP
type: SiteQuality
SIO_000300: 1.948317e6

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

MQ
type: SiteQuality
SIO_000300: 5.942e1

QD
type: SiteQuality
SIO_000300: 1.318e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.573e0

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

FS
type: SiteQuality
SIO_000300: 1.958e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.39e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.5103+82C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000347078
ensembl transcript: ENST00000354983
gene symbol: CACNA1G
hgvsc: ENST00000354983.4:c.5125-37C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425451
ensembl transcript: ENST00000513964
gene symbol: CACNA1G
hgvsc: ENST00000513964.1:c.5092-37C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425153
ensembl transcript: ENST00000504076
gene symbol: CACNA1G
hgvsc: ENST00000504076.1:c.5193+82C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.5194-37C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426172
ensembl transcript: ENST00000513689
gene symbol: CACNA1G
hgvsc: ENST00000513689.2:c.5092-37C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.5071-37C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.5194-37C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.5173-37C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.5206-37C>A
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 7594
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 573
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1706
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 81
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12003
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1937
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4919
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2989
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 667
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6985
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 119
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 410
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 131
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15170
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1000
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3745
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10493
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1543
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4438
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1379
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1600
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 997
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1516
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3826
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 867
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7658
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1341
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15715
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2486
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2086
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3519
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9714
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524297298945186e-5
allele num: 65604
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8410
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.94e1

QD
type: SiteQuality
SIO_000300: 1.686e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.318e0

MQRankSum
type: SiteQuality
SIO_000300: -7.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.265e0

FS
type: SiteQuality
SIO_000300: 5.961e0

VQSLOD
type: SiteQuality
SIO_000300: -3.545e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

DP
type: SiteQuality
SIO_000300: 1.929681e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.5194-34C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000420918
ensembl transcript: ENST00000507336
gene symbol: CACNA1G
hgvsc: ENST00000507336.1:c.5194-34C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425153
ensembl transcript: ENST00000504076
gene symbol: CACNA1G
hgvsc: ENST00000504076.1:c.5194-83C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.5173-34C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.5194-34C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425451
ensembl transcript: ENST00000513964
gene symbol: CACNA1G
hgvsc: ENST00000513964.1:c.5092-34C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427231
ensembl transcript: ENST00000503436
gene symbol: CACNA1G
hgvsc: ENST00000503436.1:c.5158-83C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422407
ensembl transcript: ENST00000514717
gene symbol: CACNA1G
hgvsc: ENST00000514717.1:c.5056-34C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.5227-83C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423112
ensembl transcript: ENST00000507510
gene symbol: CACNA1G
hgvsc: ENST00000507510.2:c.5227-34C>A
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 81
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7311
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2989
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7573
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11858
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 120
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 999
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1701
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15050
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 605
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3696
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1912
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 411
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 669
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4918
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1504
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4397
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1359
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1550
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1377
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15604
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1026
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1617
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2077
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3506
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2483
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3810
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10491
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7593
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9692
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526158354190831e-5
allele num: 65524
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8394
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.927324e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.45e0

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-1

QD
type: SiteQuality
SIO_000300: 1.389e1

MQ
type: SiteQuality
SIO_000300: 5.944e1

FS
type: SiteQuality
SIO_000300: 1.102e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.5194-34C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.5194-34C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.5227-34C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.5206-34C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.5173-34C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.5071-34C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000339302
ensembl transcript: ENST00000352832
gene symbol: CACNA1G
hgvsc: ENST00000352832.5:c.5125-34C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.5194-34C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.5227-83C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427238
ensembl transcript: ENST00000503485
gene symbol: CACNA1G
hgvsc: ENST00000503485.1:c.5125-34C>T
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 15050
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 605
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1912
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7573
bin: 3.75e1
variant carriers: 2

GenotypeDepth
all individuals: 71
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 669
bin: 6.25e1
variant carriers: 2

GenotypeDepth
all individuals: 120
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 81
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7311
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4918
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2989
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 27
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3696
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 411
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 999
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 11858
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 238
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1701
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3506
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1377
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1617
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1550
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2483
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15604
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1504
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1359
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7593
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1026
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4397
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10491
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 3810
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2077
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.156950125144986e-5
allele num: 65524
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.031778786628147e-4
allele num: 9692
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8394
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.430428970713331e-4
allele num: 16458
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.102e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

MQ
type: SiteQuality
SIO_000300: 5.944e1

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

QD
type: SiteQuality
SIO_000300: 1.389e1

VQSLOD
type: SiteQuality
SIO_000300: 2.45e0

DP
type: SiteQuality
SIO_000300: 1.927324e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.94e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425153
ensembl transcript: ENST00000504076
gene symbol: CACNA1G
hgvsc: ENST00000504076.1:c.5194-82G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422407
ensembl transcript: ENST00000514717
gene symbol: CACNA1G
hgvsc: ENST00000514717.1:c.5056-33G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.5158-33G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425451
ensembl transcript: ENST00000513964
gene symbol: CACNA1G
hgvsc: ENST00000513964.1:c.5092-33G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426098
ensembl transcript: ENST00000515165
gene symbol: CACNA1G
hgvsc: ENST00000515165.1:c.5227-33G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.5173-33G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000353990
ensembl transcript: ENST00000360761
gene symbol: CACNA1G
hgvsc: ENST00000360761.4:c.5158-33G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.5194-33G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427231
ensembl transcript: ENST00000503436
gene symbol: CACNA1G
hgvsc: ENST00000503436.1:c.5158-82G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423112
ensembl transcript: ENST00000507510
gene symbol: CACNA1G
hgvsc: ENST00000507510.2:c.5227-33G>A
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 1915
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 618
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 7564
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4906
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 81
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2985
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7475
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11776
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3631
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 119
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15051
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 410
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 666
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1702
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 131
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 996
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2076
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1346
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4407
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1536
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 856
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1232
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2481
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 982
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1506
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3836
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1574
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7636
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3515
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15924
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10492
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 527
bin: 5.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9704
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.191327138432213e-4
allele num: 8394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65558
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.64e-1

QD
type: SiteQuality
SIO_000300: 1.537e1

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

DP
type: SiteQuality
SIO_000300: 1.926029e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 3.018e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000339302
ensembl transcript: ENST00000352832
gene symbol: CACNA1G
hgvsc: ENST00000352832.5:c.5125-27G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.5227-27G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.5125-27G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.5227-27G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.5158-27G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000420918
ensembl transcript: ENST00000507336
gene symbol: CACNA1G
hgvsc: ENST00000507336.1:c.5194-27G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427238
ensembl transcript: ENST00000503485
gene symbol: CACNA1G
hgvsc: ENST00000503485.1:c.5125-27G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427231
ensembl transcript: ENST00000503436
gene symbol: CACNA1G
hgvsc: ENST00000503436.1:c.5158-76G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425451
ensembl transcript: ENST00000513964
gene symbol: CACNA1G
hgvsc: ENST00000513964.1:c.5092-27G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.5206-27G>A
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 410
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 113
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 658
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 15108
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3191
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 81
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1819
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11624
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 8102
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2981
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7538
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4909
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 665
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 996
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1701
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 131
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10501
bin: 9.75e1
variant carriers: 4

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

GenotypeQuality
all individuals: 803
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1509
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1130
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3527
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 806
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3848
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4458
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17441
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1216
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2480
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7724
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1352
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2074
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9720
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.1020258725897e-5
allele num: 65552
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

MQRankSum
type: SiteQuality
SIO_000300: -3.86e-1

DP
type: SiteQuality
SIO_000300: 1.927274e6

BaseQRankSum
type: SiteQuality
SIO_000300: 9.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000409759
ensembl transcript: ENST00000442258
gene symbol: CACNA1G
hgvsc: ENST00000442258.2:c.5104-22T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.5125-22T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.5194-22T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000339302
ensembl transcript: ENST00000352832
gene symbol: CACNA1G
hgvsc: ENST00000352832.5:c.5125-22T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.5104-71T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423112
ensembl transcript: ENST00000507510
gene symbol: CACNA1G
hgvsc: ENST00000507510.2:c.5227-22T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.5227-71T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.5227-22T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425698
ensembl transcript: ENST00000514181
gene symbol: CACNA1G
hgvsc: ENST00000514181.1:c.5152-22T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.5071-22T>C
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 1701
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2735
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1728
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7546
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 8711
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 659
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 665
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4901
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15083
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2980
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 996
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 410
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 11596
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2482
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18590
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1478
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1108
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3558
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4495
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7888
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3906
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10506
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1135
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2083
bin: 8.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.213592233009709e-4
allele num: 16480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9724
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524157902758726e-5
allele num: 65610
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 3.27e0

VQSLOD
type: SiteQuality
SIO_000300: 3.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.07e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

QD
type: SiteQuality
SIO_000300: 1.524e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.43e-1

DP
type: SiteQuality
SIO_000300: 1.93045e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.5206-21A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.5173-21A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000347078
ensembl transcript: ENST00000354983
gene symbol: CACNA1G
hgvsc: ENST00000354983.4:c.5125-21A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.5227-21A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.5194-21A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.5158-21A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.5194-21A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423112
ensembl transcript: ENST00000507510
gene symbol: CACNA1G
hgvsc: ENST00000507510.2:c.5227-21A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.5227-70A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.5125-21A>G
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 2617
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15113
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4903
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8802
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 665
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11605
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1701
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2979
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 654
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 996
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7552
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1716
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 81
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 410
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3913
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18725
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3557
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1082
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7905
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10506
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 706
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1483
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2483
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4503
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1092
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2085
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65630
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.028594939312899e-4
allele num: 9722
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8368
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 5.055e0

QD
type: SiteQuality
SIO_000300: 2.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

DP
type: SiteQuality
SIO_000300: 1.931452e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.644e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000347078
ensembl transcript: ENST00000354983
gene symbol: CACNA1G
hgvsc: ENST00000354983.4:c.5125-12C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.5173-12C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.5227-61C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422407
ensembl transcript: ENST00000514717
gene symbol: CACNA1G
hgvsc: ENST00000514717.1:c.5056-12C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.5248-12C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000339302
ensembl transcript: ENST00000352832
gene symbol: CACNA1G
hgvsc: ENST00000352832.5:c.5125-12C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.5227-12C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427238
ensembl transcript: ENST00000503485
gene symbol: CACNA1G
hgvsc: ENST00000503485.1:c.5125-12C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.5194-12C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.5158-12C>T
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 4905
bin: 4.25e1
variant carriers: 17

GenotypeDepth
all individuals: 7569
bin: 3.75e1
variant carriers: 16

GenotypeDepth
all individuals: 11717
bin: 3.25e1
variant carriers: 15

GenotypeDepth
all individuals: 647
bin: 7.5e0
variant carriers: 3

GenotypeDepth
all individuals: 15264
bin: 2.75e1
variant carriers: 17

GenotypeDepth
all individuals: 27
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 239
bin: 7.25e1
variant carriers: 3

GenotypeDepth
all individuals: 85
bin: 9.75e1
variant carriers: 4

GenotypeDepth
all individuals: 92
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 8.75e1
variant carriers: 2

GenotypeDepth
all individuals: 667
bin: 6.25e1
variant carriers: 4

GenotypeDepth
all individuals: 1965
bin: 1.75e1
variant carriers: 4

GenotypeDepth
all individuals: 9359
bin: 2.25e1
variant carriers: 10

GenotypeDepth
all individuals: 1534
bin: 1.25e1
variant carriers: 4

GenotypeDepth
all individuals: 2974
bin: 4.75e1
variant carriers: 10

GenotypeDepth
all individuals: 1710
bin: 5.25e1
variant carriers: 15

GenotypeDepth
all individuals: 1000
bin: 5.75e1
variant carriers: 9

GenotypeDepth
all individuals: 71
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 7.75e1
variant carriers: 4

GenotypeDepth
all individuals: 409
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2493
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3968
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4544
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10591
bin: 9.75e1
variant carriers: 137

GenotypeQuality
all individuals: 19391
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2085
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 110
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1394
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7967
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3593
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 902
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522301720200944e-5
allele num: 65690
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.213444970270598e-4
allele num: 16482
num of homozygotes: 0

East Asian
type: Population
allele count: 132
allele frequency: 1.575931232091691e-2
allele num: 8376
num of homozygotes: 1

Latino
type: Population
allele count: 1
allele frequency: 8.727526618956188e-5
allele num: 11458
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

QD
type: SiteQuality
SIO_000300: 1.265e1

VQSLOD
type: SiteQuality
SIO_000300: 3.89e0

FS
type: SiteQuality
SIO_000300: 5.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.083e0

DP
type: SiteQuality
SIO_000300: 1.939974e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425451
ensembl transcript: ENST00000513964
gene symbol: CACNA1G
hgvsc: ENST00000513964.1:c.5092-5dupT
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.5071-5dupT
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.5227-5dupT
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.5104-54dupT
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426172
ensembl transcript: ENST00000513689
gene symbol: CACNA1G
hgvsc: ENST00000513689.2:c.5092-5dupT
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422407
ensembl transcript: ENST00000514717
gene symbol: CACNA1G
hgvsc: ENST00000514717.1:c.5056-5dupT
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.5194-5dupT
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.5206-5dupT
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.5194-5dupT
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.5227-5dupT
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 11917
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4923
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1479
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1703
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1881
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15212
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7581
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 997
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 669
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9328
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 637
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 410
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2993
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19146
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1384
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 826
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3596
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4533
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7890
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10501
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 69
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3937
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2495
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2082
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 923
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.742787200559538e-5
allele num: 11438
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8370
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65542
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.41e-1

QD
type: SiteQuality
SIO_000300: 8.630000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 4.97e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.95e-1

DP
type: SiteQuality
SIO_000300: 1.943124e6

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.5169G>C
hgvsp: ENST00000502264.1:c.5169G>C(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000353990
ensembl transcript: ENST00000360761
gene symbol: CACNA1G
hgvsc: ENST00000360761.4:c.5169G>C
hgvsp: ENST00000360761.4:c.5169G>C(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.5238G>C
hgvsp: ENST00000359106.5:c.5238G>C(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425153
ensembl transcript: ENST00000504076
gene symbol: CACNA1G
hgvsc: ENST00000504076.1:c.5194-38G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.5136G>C
hgvsp: ENST00000510115.1:c.5136G>C(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000409759
ensembl transcript: ENST00000442258
gene symbol: CACNA1G
hgvsc: ENST00000442258.2:c.5115G>C
hgvsp: ENST00000442258.2:c.5115G>C(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.5259G>C
hgvsp: ENST00000514079.1:c.5259G>C(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000424664
ensembl transcript: ENST00000511768
gene symbol: CACNA1G
hgvsc: ENST00000511768.1:c.5137-38G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.5238G>C
hgvsp: ENST00000505165.1:c.5238G>C(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427247
ensembl transcript: ENST00000511765
gene symbol: CACNA1G
hgvsc: ENST00000511765.1:c.5173-38G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.5104-38G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.5205G>C
hgvsp: ENST00000512389.1:c.5205G>C(p.%3D)
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 82
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 410
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 507
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4949
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15757
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 995
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12250
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10479
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1706
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 629
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 778
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2995
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 238
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7650
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 669
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21217
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 906
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 323
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4254
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2151
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2542
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8535
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3804
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4809
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10551
bin: 9.75e1
variant carriers: 1

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.697164724299878e-5
allele num: 11498
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9754
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65990
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

QD
type: SiteQuality
SIO_000300: 1.175e1

MQRankSum
type: SiteQuality
SIO_000300: 1.12e-1

FS
type: SiteQuality
SIO_000300: 3.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.075e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 1.966155e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425153
ensembl transcript: ENST00000504076
gene symbol: CACNA1G
hgvsc: ENST00000504076.1:c.5194-25A>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423112
ensembl transcript: ENST00000507510
gene symbol: CACNA1G
hgvsc: ENST00000507510.2:c.5251A>C
hgvsp: ENSP00000423112.2:p.Met1751Leu
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.5251A>C
hgvsp: ENSP00000422268.1:p.Met1751Leu
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000424664
ensembl transcript: ENST00000511768
gene symbol: CACNA1G
hgvsc: ENST00000511768.1:c.5137-25A>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.5218A>C
hgvsp: ENSP00000426261.1:p.Met1740Leu
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.5272A>C
hgvsp: ENSP00000423317.1:p.Met1758Leu
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000420918
ensembl transcript: ENST00000507336
gene symbol: CACNA1G
hgvsc: ENST00000507336.1:c.5218A>C
hgvsp: ENSP00000420918.1:p.Met1740Leu
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000409759
ensembl transcript: ENST00000442258
gene symbol: CACNA1G
hgvsc: ENST00000442258.2:c.5128A>C
hgvsp: ENSP00000409759.2:p.Met1710Leu
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.5149A>C
hgvsp: ENSP00000427173.1:p.Met1717Leu
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.5218A>C
hgvsp: ENSP00000426232.1:p.Met1740Leu
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427247
ensembl transcript: ENST00000511765
gene symbol: CACNA1G
hgvsc: ENST00000511765.1:c.5173-25A>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427231
ensembl transcript: ENST00000503436
gene symbol: CACNA1G
hgvsc: ENST00000503436.1:c.5158-25A>C
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 410
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 369
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 26
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 387
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7676
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 16053
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 995
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 514
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10625
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1707
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 669
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2998
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12419
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4963
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2566
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3876
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2171
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4333
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10567
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 8695
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4908
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21607
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.021513173797438e-5
allele num: 66192
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
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: 7.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.27e-1

QD
type: SiteQuality
SIO_000300: 1.137e1

MQ
type: SiteQuality
SIO_000300: 5.899e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

DP
type: SiteQuality
SIO_000300: 1.976029e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

FS
type: SiteQuality
SIO_000300: 4.308e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.5104-25A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.5182A>G
hgvsp: ENSP00000425522.1:p.Met1728Val
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427247
ensembl transcript: ENST00000511765
gene symbol: CACNA1G
hgvsc: ENST00000511765.1:c.5173-25A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.5227-25A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.5218A>G
hgvsp: ENSP00000426261.1:p.Met1740Val
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425153
ensembl transcript: ENST00000504076
gene symbol: CACNA1G
hgvsc: ENST00000504076.1:c.5194-25A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.5218A>G
hgvsp: ENSP00000421518.1:p.Met1740Val
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.5149A>G
hgvsp: ENSP00000427173.1:p.Met1717Val
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000409759
ensembl transcript: ENST00000442258
gene symbol: CACNA1G
hgvsc: ENST00000442258.2:c.5128A>G
hgvsp: ENSP00000409759.2:p.Met1710Val
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427238
ensembl transcript: ENST00000503485
gene symbol: CACNA1G
hgvsc: ENST00000503485.1:c.5149A>G
hgvsp: ENSP00000427238.1:p.Met1717Val
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427231
ensembl transcript: ENST00000503436
gene symbol: CACNA1G
hgvsc: ENST00000503436.1:c.5158-25A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000339302
ensembl transcript: ENST00000352832
gene symbol: CACNA1G
hgvsc: ENST00000352832.5:c.5149A>G
hgvsp: ENSP00000339302.5:p.Met1717Val
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 43
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 387
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 514
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 669
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 369
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 410
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 995
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2998
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1707
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4963
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 7676
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10625
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16053
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12419
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10567
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3876
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2171
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21607
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 180
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4908
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8695
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 147
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2566
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4333
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66192
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.023751023751024e-4
allele num: 9768
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.27e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

DP
type: SiteQuality
SIO_000300: 1.976029e6

QD
type: SiteQuality
SIO_000300: 1.137e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.31e-1

FS
type: SiteQuality
SIO_000300: 4.308e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.05e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000409759
ensembl transcript: ENST00000442258
gene symbol: CACNA1G
hgvsc: ENST00000442258.2:c.5129T>C
hgvsp: ENSP00000409759.2:p.Met1710Thr
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425153
ensembl transcript: ENST00000504076
gene symbol: CACNA1G
hgvsc: ENST00000504076.1:c.5194-24T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000339302
ensembl transcript: ENST00000352832
gene symbol: CACNA1G
hgvsc: ENST00000352832.5:c.5150T>C
hgvsp: ENSP00000339302.5:p.Met1717Thr
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000424664
ensembl transcript: ENST00000511768
gene symbol: CACNA1G
hgvsc: ENST00000511768.1:c.5137-24T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.5227-24T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.5252T>C
hgvsp: ENSP00000422268.1:p.Met1751Thr
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000353990
ensembl transcript: ENST00000360761
gene symbol: CACNA1G
hgvsc: ENST00000360761.4:c.5183T>C
hgvsp: ENSP00000353990.4:p.Met1728Thr
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000420918
ensembl transcript: ENST00000507336
gene symbol: CACNA1G
hgvsc: ENST00000507336.1:c.5219T>C
hgvsp: ENSP00000420918.1:p.Met1740Thr
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.5198T>C
hgvsp: ENSP00000423155.1:p.Met1733Thr
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422407
ensembl transcript: ENST00000514717
gene symbol: CACNA1G
hgvsc: ENST00000514717.1:c.5081T>C
hgvsp: ENSP00000422407.1:p.Met1694Thr
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.5273T>C
hgvsp: ENSP00000423317.1:p.Met1758Thr
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.5219T>C
hgvsp: ENSP00000426261.1:p.Met1740Thr
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 348
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 995
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 16072
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10648
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4962
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 410
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7676
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 496
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2997
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 378
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12428
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1708
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 669
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2570
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8712
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3881
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21635
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2171
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 185
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4336
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 111
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10566
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4909
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509980974239725e-5
allele num: 66226
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.976607e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

VQSLOD
type: SiteQuality
SIO_000300: 7.07e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

FS
type: SiteQuality
SIO_000300: 1.102e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.13e0

MQRankSum
type: SiteQuality
SIO_000300: 4.85e-1

QD
type: SiteQuality
SIO_000300: 1.041e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.73e-1

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000424664
ensembl transcript: ENST00000511768
gene symbol: CACNA1G
hgvsc: ENST00000511768.1:c.5144C>T
hgvsp: ENSP00000424664.1:p.Ala1715Val
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000420918
ensembl transcript: ENST00000507336
gene symbol: CACNA1G
hgvsc: ENST00000507336.1:c.5250C>T
hgvsp: ENST00000507336.1:c.5250C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425451
ensembl transcript: ENST00000513964
gene symbol: CACNA1G
hgvsc: ENST00000513964.1:c.5148C>T
hgvsp: ENST00000513964.1:c.5148C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.5229C>T
hgvsp: ENST00000515411.1:c.5229C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.5229C>T
hgvsp: ENST00000429973.2:c.5229C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425698
ensembl transcript: ENST00000514181
gene symbol: CACNA1G
hgvsc: ENST00000514181.1:c.5208C>T
hgvsp: ENST00000514181.1:c.5208C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.5283C>T
hgvsp: ENST00000505165.1:c.5283C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000353990
ensembl transcript: ENST00000360761
gene symbol: CACNA1G
hgvsc: ENST00000360761.4:c.5214C>T
hgvsp: ENST00000360761.4:c.5214C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.5250C>T
hgvsp: ENST00000515765.1:c.5250C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.5283C>T
hgvsp: ENST00000359106.5:c.5283C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000409759
ensembl transcript: ENST00000442258
gene symbol: CACNA1G
hgvsc: ENST00000442258.2:c.5160C>T
hgvsp: ENST00000442258.2:c.5160C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.5181C>T
hgvsp: ENST00000510115.1:c.5181C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 82
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 374
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12608
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 329
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7733
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 669
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 995
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3009
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 4988
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 10392
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1709
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 42
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16360
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 410
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3909
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4383
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21515
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10580
bin: 9.75e1
variant carriers: 6

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

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

GenotypeQuality
all individuals: 97
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4980
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2569
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8811
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2185
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 5.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66444
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 7.029053420805998e-4
allele num: 8536
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.985971e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.308e0

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

QD
type: SiteQuality
SIO_000300: 1.053e1

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422407
ensembl transcript: ENST00000514717
gene symbol: CACNA1G
hgvsc: ENST00000514717.1:c.5134+4A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.5251+4A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.5272+4A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427231
ensembl transcript: ENST00000503436
gene symbol: CACNA1G
hgvsc: ENST00000503436.1:c.5187+4A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425451
ensembl transcript: ENST00000513964
gene symbol: CACNA1G
hgvsc: ENST00000513964.1:c.5170+4A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427238
ensembl transcript: ENST00000503485
gene symbol: CACNA1G
hgvsc: ENST00000503485.1:c.5203+4A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000353990
ensembl transcript: ENST00000360761
gene symbol: CACNA1G
hgvsc: ENST00000360761.4:c.5236+4A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.5326+4A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.5236+4A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.5149+4A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.5284+4A>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.5272+4A>G
variant of: http://identifiers.org/hgnc/1394

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

GenotypeDepth
all individuals: 994
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9929
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 12705
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 669
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 716
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5007
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 423
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16263
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 7753
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1711
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 410
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3001
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2584
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2203
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 20735
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8805
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4398
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3960
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5040
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10588
bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.514808572116542e-5
allele num: 66448
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

QD
type: SiteQuality
SIO_000300: 1.38e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.372e0

FS
type: SiteQuality
SIO_000300: 7.13e-1

DP
type: SiteQuality
SIO_000300: 1.984685e6

VQSLOD
type: SiteQuality
SIO_000300: 2.93e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.5251+15G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.5305+15G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425153
ensembl transcript: ENST00000504076
gene symbol: CACNA1G
hgvsc: ENST00000504076.1:c.5223+15G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.5272+15G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.5305+15G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000347078
ensembl transcript: ENST00000354983
gene symbol: CACNA1G
hgvsc: ENST00000354983.4:c.5203+15G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000409759
ensembl transcript: ENST00000442258
gene symbol: CACNA1G
hgvsc: ENST00000442258.2:c.5182+15G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.5236+15G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.5256+15G>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422407
ensembl transcript: ENST00000514717
gene symbol: CACNA1G
hgvsc: ENST00000514717.1:c.5134+15G>A
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 202
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 16281
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 463
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5010
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9537
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 410
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 883
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 669
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1710
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 993
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7812
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12811
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3001
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4421
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3975
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2590
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2205
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5081
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8737
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10586
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 20394
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505479947007106e-5
allele num: 66424
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.808e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

FS
type: SiteQuality
SIO_000300: 1.434e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.179e0

DP
type: SiteQuality
SIO_000300: 1.985507e6

QD
type: SiteQuality
SIO_000300: 7.5e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.451e0

MQ
type: SiteQuality
SIO_000300: 5.886e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.5203+19G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.5305+19G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.5236+19G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.5251+19G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.5149+19G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.5284+19G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.5256+19G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.5272+19G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000409759
ensembl transcript: ENST00000442258
gene symbol: CACNA1G
hgvsc: ENST00000442258.2:c.5182+19G>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000420918
ensembl transcript: ENST00000507336
gene symbol: CACNA1G
hgvsc: ENST00000507336.1:c.5272+19G>C
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 5039
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12836
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 127
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1710
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 476
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2997
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 201
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 954
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 992
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 409
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 670
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 7804
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 82
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16180
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9513
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19990
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2214
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2591
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8705
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3991
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5075
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10600
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 377
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4420
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.010234798314269e-5
allele num: 66440
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.037e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

QD
type: SiteQuality
SIO_000300: 1.33e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.985069e6

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425153
ensembl transcript: ENST00000504076
gene symbol: CACNA1G
hgvsc: ENST00000504076.1:c.5223+24G>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000353990
ensembl transcript: ENST00000360761
gene symbol: CACNA1G
hgvsc: ENST00000360761.4:c.5236+24G>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.5251+24G>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.5256+24G>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.5272+24G>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427238
ensembl transcript: ENST00000503485
gene symbol: CACNA1G
hgvsc: ENST00000503485.1:c.5203+24G>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.5272+24G>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000347078
ensembl transcript: ENST00000354983
gene symbol: CACNA1G
hgvsc: ENST00000354983.4:c.5203+24G>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.5326+24G>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.5272+24G>T
variant of: http://identifiers.org/hgnc/1394

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

GenotypeDepth
all individuals: 7841
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3003
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 489
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 409
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16152
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5064
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 993
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12906
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1704
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 971
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 195
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9385
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 669
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19579
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2219
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4038
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5123
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8718
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4427
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2594
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10611
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66412
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.679048776254123e-5
allele num: 11522
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.98648e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.945e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.68e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.600000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.311e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000420918
ensembl transcript: ENST00000507336
gene symbol: CACNA1G
hgvsc: ENST00000507336.1:c.5272+30C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.5305+30C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.5305+30C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427238
ensembl transcript: ENST00000503485
gene symbol: CACNA1G
hgvsc: ENST00000503485.1:c.5203+30C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422407
ensembl transcript: ENST00000514717
gene symbol: CACNA1G
hgvsc: ENST00000514717.1:c.5134+30C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.5326+30C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.5133+30C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000353990
ensembl transcript: ENST00000360761
gene symbol: CACNA1G
hgvsc: ENST00000360761.4:c.5236+30C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425451
ensembl transcript: ENST00000513964
gene symbol: CACNA1G
hgvsc: ENST00000513964.1:c.5170+30C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000409759
ensembl transcript: ENST00000442258
gene symbol: CACNA1G
hgvsc: ENST00000442258.2:c.5182+30C>A
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 25
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9289
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 492
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7854
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5101
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 410
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 945
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16090
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3005
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 992
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1710
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13029
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 670
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2599
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 462
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4443
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5147
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2225
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4050
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8648
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10619
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 19477
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506341698550899e-5
allele num: 66386
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16400
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.126e0

FS
type: SiteQuality
SIO_000300: 1.227e0

DP
type: SiteQuality
SIO_000300: 1.98874e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.62e-1

QD
type: SiteQuality
SIO_000300: 1.282e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.87e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.5251+31C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423112
ensembl transcript: ENST00000507510
gene symbol: CACNA1G
hgvsc: ENST00000507510.2:c.5305+31C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000420918
ensembl transcript: ENST00000507336
gene symbol: CACNA1G
hgvsc: ENST00000507336.1:c.5272+31C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.5272+31C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.5236+31C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.5272+31C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425153
ensembl transcript: ENST00000504076
gene symbol: CACNA1G
hgvsc: ENST00000504076.1:c.5223+31C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.5326+31C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425451
ensembl transcript: ENST00000513964
gene symbol: CACNA1G
hgvsc: ENST00000513964.1:c.5170+31C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000353990
ensembl transcript: ENST00000360761
gene symbol: CACNA1G
hgvsc: ENST00000360761.4:c.5236+31C>T
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 3002
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 196
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9254
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7858
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 55
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5102
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 670
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 933
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 492
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 991
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 409
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16129
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 42
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1706
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13041
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8673
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2602
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5163
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 378
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4444
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10624
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2223
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19634
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4065
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66386
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.093845216331505e-5
allele num: 16410
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.988892e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 5.83e1

QD
type: SiteQuality
SIO_000300: 3.004e1

VQSLOD
type: SiteQuality
SIO_000300: -3.325e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.5e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.5327-42C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.5204-42C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.5150-42C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.5306-42C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000424664
ensembl transcript: ENST00000511768
gene symbol: CACNA1G
hgvsc: ENST00000511768.1:c.5167-42C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.5285-42C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427238
ensembl transcript: ENST00000503485
gene symbol: CACNA1G
hgvsc: ENST00000503485.1:c.5204-42C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.5273-42C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000420918
ensembl transcript: ENST00000507336
gene symbol: CACNA1G
hgvsc: ENST00000507336.1:c.5273-42C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.5257-42C>G
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 669
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1707
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 801
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9214
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5161
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13120
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 171
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7952
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 59
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1005
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16090
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 237
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 409
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 25
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3033
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 82
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 456
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4213
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2282
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10708
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 332
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19601
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2682
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5317
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8694
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4505
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16370
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

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

African
type: Population
allele count: 2
allele frequency: 2.046245140167792e-4
allele num: 9774
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66452
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.51e0

DP
type: SiteQuality
SIO_000300: 1.995086e6

VQSLOD
type: SiteQuality
SIO_000300: -2.054e0

QD
type: SiteQuality
SIO_000300: 1.348e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.76e-1

FS
type: SiteQuality
SIO_000300: 1.7926e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.21e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.5204-36T>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.5134-36T>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.5252-36T>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.5273-36T>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423112
ensembl transcript: ENST00000507510
gene symbol: CACNA1G
hgvsc: ENST00000507510.2:c.5306-36T>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.5327-36T>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.5306-36T>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427231
ensembl transcript: ENST00000503436
gene symbol: CACNA1G
hgvsc: ENST00000503436.1:c.5188-36T>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.5273-36T>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.5257-36T>A
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 3048
bin: 4.75e1
variant carriers: 4

GenotypeDepth
all individuals: 13121
bin: 3.25e1
variant carriers: 3

GenotypeDepth
all individuals: 25
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16069
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1711
bin: 5.25e1
variant carriers: 3

GenotypeDepth
all individuals: 9256
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 443
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 411
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 238
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 83
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 165
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 739
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1010
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 57
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 7959
bin: 3.75e1
variant carriers: 5

GenotypeDepth
all individuals: 5186
bin: 4.25e1
variant carriers: 7

GenotypeDepth
all individuals: 672
bin: 6.25e1
variant carriers: 2

GenotypeDepth
all individuals: 43
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4259
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4526
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8685
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 259
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10758
bin: 9.75e1
variant carriers: 31

GenotypeQuality
all individuals: 5328
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2692
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19693
bin: 6.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.022704029453876e-4
allele num: 9778
num of homozygotes: 0

South Asian
type: Population
allele count: 24
allele frequency: 1.46609651802077e-3
allele num: 16370
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.02571860816944e-4
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.024727754046086e-5
allele num: 66484
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.62e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

QD
type: SiteQuality
SIO_000300: 1.328e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.96e-1

DP
type: SiteQuality
SIO_000300: 1.997183e6

FS
type: SiteQuality
SIO_000300: 5.26e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.5150-31T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426098
ensembl transcript: ENST00000515165
gene symbol: CACNA1G
hgvsc: ENST00000515165.1:c.5306-31T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.5285-31T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000347078
ensembl transcript: ENST00000354983
gene symbol: CACNA1G
hgvsc: ENST00000354983.4:c.5204-31T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425698
ensembl transcript: ENST00000514181
gene symbol: CACNA1G
hgvsc: ENST00000514181.1:c.5231-31T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425153
ensembl transcript: ENST00000504076
gene symbol: CACNA1G
hgvsc: ENST00000504076.1:c.5224-31T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.5134-31T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.5327-31T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422407
ensembl transcript: ENST00000514717
gene symbol: CACNA1G
hgvsc: ENST00000514717.1:c.5135-31T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.5252-31T>C
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 13144
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7943
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1009
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 9351
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5188
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16029
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1711
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 411
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 688
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 673
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 427
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 239
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3059
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 431
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2313
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4278
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10749
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 207
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2702
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5345
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8689
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19774
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4549
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66500
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.574e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.738e0

DP
type: SiteQuality
SIO_000300: 1.997548e6

MQRankSum
type: SiteQuality
SIO_000300: -2.186e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.006e0

FS
type: SiteQuality
SIO_000300: 2.949e0

QD
type: SiteQuality
SIO_000300: 1.287e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.5237-26C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.5306-26C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000409759
ensembl transcript: ENST00000442258
gene symbol: CACNA1G
hgvsc: ENST00000442258.2:c.5183-26C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.5204-26C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425153
ensembl transcript: ENST00000504076
gene symbol: CACNA1G
hgvsc: ENST00000504076.1:c.5224-26C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.5257-26C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.5327-26C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425451
ensembl transcript: ENST00000513964
gene symbol: CACNA1G
hgvsc: ENST00000513964.1:c.5171-26C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427238
ensembl transcript: ENST00000503485
gene symbol: CACNA1G
hgvsc: ENST00000503485.1:c.5204-26C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.5252-26C>G
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 144
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9446
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 407
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7956
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 239
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1715
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13128
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 642
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 411
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 674
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16006
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5192
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1011
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3060
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 81
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 268
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4300
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2326
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5345
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10776
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8671
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4566
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2718
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19800
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66520
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.108735491753207e-5
allele num: 16370
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.077e0

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.85e-1

DP
type: SiteQuality
SIO_000300: 1.998431e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 1.063e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000339302
ensembl transcript: ENST00000352832
gene symbol: CACNA1G
hgvsc: ENST00000352832.5:c.5204-25T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426172
ensembl transcript: ENST00000513689
gene symbol: CACNA1G
hgvsc: ENST00000513689.2:c.5171-25T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.5327-25T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.5252-25T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427231
ensembl transcript: ENST00000503436
gene symbol: CACNA1G
hgvsc: ENST00000503436.1:c.5188-25T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.5150-25T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.5237-25T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.5273-25T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425451
ensembl transcript: ENST00000513964
gene symbol: CACNA1G
hgvsc: ENST00000513964.1:c.5171-25T>C
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427238
ensembl transcript: ENST00000503485
gene symbol: CACNA1G
hgvsc: ENST00000503485.1:c.5204-25T>C
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 13131
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7952
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 405
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1011
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 15986
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 674
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 650
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9462
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5186
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 239
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 411
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1714
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 81
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3066
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 42
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2719
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2328
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4571
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5355
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 177
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8671
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4300
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10779
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 19656
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 5.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 1.022076860179886e-4
allele num: 9784
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66528
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

DP
type: SiteQuality
SIO_000300: 1.998353e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.87e-1

QD
type: SiteQuality
SIO_000300: 1.19e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.445e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.467e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.5306-22C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.5257-22C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427238
ensembl transcript: ENST00000503485
gene symbol: CACNA1G
hgvsc: ENST00000503485.1:c.5204-22C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000339302
ensembl transcript: ENST00000352832
gene symbol: CACNA1G
hgvsc: ENST00000352832.5:c.5204-22C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.5150-22C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.5273-22C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.5134-22C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000347078
ensembl transcript: ENST00000354983
gene symbol: CACNA1G
hgvsc: ENST00000354983.4:c.5204-22C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.5273-22C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.5273-22C>A
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 7963
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3071
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 392
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5192
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 126
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1008
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 593
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 239
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13147
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 8.25e1
variant carriers: 2

GenotypeDepth
all individuals: 1716
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 9455
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 676
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 25
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 412
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16023
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2329
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10791
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 57
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19880
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4579
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2719
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8696
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5378
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4309
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.5135996153037e-5
allele num: 66546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e-1

DP
type: SiteQuality
SIO_000300: 1.999803e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.286e0

MQRankSum
type: SiteQuality
SIO_000300: -5.629999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.2e-1

QD
type: SiteQuality
SIO_000300: 1.259e1

VQSLOD
type: SiteQuality
SIO_000300: 8.92e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422407
ensembl transcript: ENST00000514717
gene symbol: CACNA1G
hgvsc: ENST00000514717.1:c.5135-21C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425153
ensembl transcript: ENST00000504076
gene symbol: CACNA1G
hgvsc: ENST00000504076.1:c.5224-21C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.5273-21C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.5306-21C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.5134-21C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.5327-21C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000409759
ensembl transcript: ENST00000442258
gene symbol: CACNA1G
hgvsc: ENST00000442258.2:c.5183-21C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.5273-21C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000420918
ensembl transcript: ENST00000507336
gene symbol: CACNA1G
hgvsc: ENST00000507336.1:c.5273-21C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000353990
ensembl transcript: ENST00000360761
gene symbol: CACNA1G
hgvsc: ENST00000360761.4:c.5237-21C>A
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 5198
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 389
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 239
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 138
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3074
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16037
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7963
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13142
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 411
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9474
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 676
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 562
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1716
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1008
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19984
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5377
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10798
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 60
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 177
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2719
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4587
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4310
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2332
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8715
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66542
num of homozygotes: 0

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: 9784
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.0960741282614e-5
allele num: 16404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.323e0

DP
type: SiteQuality
SIO_000300: 2.000257e6

MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
type: SiteQuality
SIO_000300: -9.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.375e0

FS
type: SiteQuality
SIO_000300: 3.574e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

VQSLOD
type: SiteQuality
SIO_000300: 7.35e-1

QD
type: SiteQuality
SIO_000300: 1.505e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.5285-19C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.5134-19C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427231
ensembl transcript: ENST00000503436
gene symbol: CACNA1G
hgvsc: ENST00000503436.1:c.5188-19C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.5273-19C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.5204-19C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.5273-19C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.5252-19C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.5327-19C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.5257-19C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422407
ensembl transcript: ENST00000514717
gene symbol: CACNA1G
hgvsc: ENST00000514717.1:c.5135-19C>T
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 3078
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5198
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 531
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 411
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9504
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 131
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 57
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7970
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 675
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 239
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 383
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13156
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1009
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1719
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16023
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 56
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 201
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4329
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4594
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2338
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10810
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 100
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8732
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2718
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5387
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19930
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.021867974657674e-4
allele num: 9786
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66560
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.342e0

FS
type: SiteQuality
SIO_000300: 2.272e0

VQSLOD
type: SiteQuality
SIO_000300: 6.52e-1

QD
type: SiteQuality
SIO_000300: 1.013e1

MQRankSum
type: SiteQuality
SIO_000300: -1.2e-1

DP
type: SiteQuality
SIO_000300: 2.000934e6

MQ
type: SiteQuality
SIO_000300: 5.948e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.73e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427238
ensembl transcript: ENST00000503485
gene symbol: CACNA1G
hgvsc: ENST00000503485.1:c.5204-18C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.5273-18C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.5273-18C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425153
ensembl transcript: ENST00000504076
gene symbol: CACNA1G
hgvsc: ENST00000504076.1:c.5224-18C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000347078
ensembl transcript: ENST00000354983
gene symbol: CACNA1G
hgvsc: ENST00000354983.4:c.5204-18C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.5327-18C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.5252-18C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.5150-18C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000424664
ensembl transcript: ENST00000511768
gene symbol: CACNA1G
hgvsc: ENST00000511768.1:c.5167-18C>G
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422407
ensembl transcript: ENST00000514717
gene symbol: CACNA1G
hgvsc: ENST00000514717.1:c.5135-18C>G
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 374
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 512
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7970
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 411
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3078
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 239
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5204
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1720
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 16023
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 133
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1012
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 9516
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 81
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13162
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 76
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 675
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4595
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 354
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 20016
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10823
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 149
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2339
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8730
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4327
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5397
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2721
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502358703163967e-5
allele num: 66562
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.434867299732165e-4
allele num: 16428
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.14e-1

FS
type: SiteQuality
SIO_000300: 2.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.211e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.713e0

DP
type: SiteQuality
SIO_000300: 2.001414e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.52e-1

QD
type: SiteQuality
SIO_000300: 1.251e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.5306-13C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.5257-13C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.5273-13C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427238
ensembl transcript: ENST00000503485
gene symbol: CACNA1G
hgvsc: ENST00000503485.1:c.5204-13C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.5306-13C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425153
ensembl transcript: ENST00000504076
gene symbol: CACNA1G
hgvsc: ENST00000504076.1:c.5224-13C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427231
ensembl transcript: ENST00000503436
gene symbol: CACNA1G
hgvsc: ENST00000503436.1:c.5188-13C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000347078
ensembl transcript: ENST00000354983
gene symbol: CACNA1G
hgvsc: ENST00000354983.4:c.5204-13C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.5237-13C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.5150-13C>T
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 81
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9575
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13156
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 677
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 430
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 346
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16081
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 240
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7974
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1718
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5200
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3081
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1012
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 411
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20131
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 110
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2722
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5406
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4339
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4591
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8755
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2345
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10829
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502448991856726e-5
allele num: 66558
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.314e0

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

FS
type: SiteQuality
SIO_000300: 5.153e0

VQSLOD
type: SiteQuality
SIO_000300: 6.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.629999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.002497e6

QD
type: SiteQuality
SIO_000300: 7.67e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.5150-9C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000350979
ensembl transcript: ENST00000358244
gene symbol: CACNA1G
hgvsc: ENST00000358244.5:c.5204-9C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.5273-9C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.5204-9C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426172
ensembl transcript: ENST00000513689
gene symbol: CACNA1G
hgvsc: ENST00000513689.2:c.5171-9C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.5252-9C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.5285-9C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.5237-9C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425153
ensembl transcript: ENST00000504076
gene symbol: CACNA1G
hgvsc: ENST00000504076.1:c.5224-9C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425451
ensembl transcript: ENST00000513964
gene symbol: CACNA1G
hgvsc: ENST00000513964.1:c.5171-9C>A
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 1718
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9633
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3081
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 412
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 318
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7977
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 241
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 25
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13150
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5199
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1013
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16134
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 352
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 81
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 678
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 146
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2344
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8779
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20288
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10839
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4336
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5408
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4589
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2724
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502358703163967e-5
allele num: 66562
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

QD
type: SiteQuality
SIO_000300: 1.285e1

FS
type: SiteQuality
SIO_000300: 1.496e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.62e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.828e0

DP
type: SiteQuality
SIO_000300: 2.003688e6

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.5237-7C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.5273-7C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000409759
ensembl transcript: ENST00000442258
gene symbol: CACNA1G
hgvsc: ENST00000442258.2:c.5183-7C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422407
ensembl transcript: ENST00000514717
gene symbol: CACNA1G
hgvsc: ENST00000514717.1:c.5135-7C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.5252-7C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.5273-7C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423112
ensembl transcript: ENST00000507510
gene symbol: CACNA1G
hgvsc: ENST00000507510.2:c.5306-7C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.5257-7C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425153
ensembl transcript: ENST00000504076
gene symbol: CACNA1G
hgvsc: ENST00000504076.1:c.5224-7C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426172
ensembl transcript: ENST00000513689
gene symbol: CACNA1G
hgvsc: ENST00000513689.2:c.5171-7C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.5306-7C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.5273-7C>T
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 44
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 323
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3083
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5203
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 413
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 81
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7978
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 677
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 16144
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1013
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13159
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 308
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1718
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 241
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9649
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10841
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2344
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5408
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4340
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20337
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2724
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8773
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 77
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4590
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 140
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.021450459652707e-4
allele num: 9790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66576
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

QD
type: SiteQuality
SIO_000300: 1.357e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.699e0

DP
type: SiteQuality
SIO_000300: 2.004242e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.26e-1

FS
type: SiteQuality
SIO_000300: 9.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.365e0

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.5134-5C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427247
ensembl transcript: ENST00000511765
gene symbol: CACNA1G
hgvsc: ENST00000511765.1:c.5203-5C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427238
ensembl transcript: ENST00000503485
gene symbol: CACNA1G
hgvsc: ENST00000503485.1:c.5204-5C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.5306-5C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000409759
ensembl transcript: ENST00000442258
gene symbol: CACNA1G
hgvsc: ENST00000442258.2:c.5183-5C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.5285-5C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.5273-5C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.5327-5C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.5257-5C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425153
ensembl transcript: ENST00000504076
gene symbol: CACNA1G
hgvsc: ENST00000504076.1:c.5224-5C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.5273-5C>T
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.5273-5C>T
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 126
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1013
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 243
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 52
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 121
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9668
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5204
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3083
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16167
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7981
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13156
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1719
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 677
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 412
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 81
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20426
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4593
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8790
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 64
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4344
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 146
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5408
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2347
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10851
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2727
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66582
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.74e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.32e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.524e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

DP
type: SiteQuality
SIO_000300: 2.004771e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e0

QD
type: SiteQuality
SIO_000300: 2.344e1

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.5273-3C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422407
ensembl transcript: ENST00000514717
gene symbol: CACNA1G
hgvsc: ENST00000514717.1:c.5135-3C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.5252-3C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427238
ensembl transcript: ENST00000503485
gene symbol: CACNA1G
hgvsc: ENST00000503485.1:c.5204-3C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.5327-3C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000420918
ensembl transcript: ENST00000507336
gene symbol: CACNA1G
hgvsc: ENST00000507336.1:c.5273-3C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.5273-3C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.5273-3C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423112
ensembl transcript: ENST00000507510
gene symbol: CACNA1G
hgvsc: ENST00000507510.2:c.5306-3C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.5150-3C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.5306-3C>A
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425153
ensembl transcript: ENST00000504076
gene symbol: CACNA1G
hgvsc: ENST00000504076.1:c.5224-3C>A
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 25
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16183
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1720
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5204
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7981
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3084
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 270
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13170
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 243
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 678
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 9679
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1014
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 413
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 240
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 135
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8795
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10862
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 20432
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2724
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2348
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 117
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4340
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4594
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5406
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.006366748753679e-5
allele num: 66596
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-2

FS
type: SiteQuality
SIO_000300: 8.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

MQ
type: SiteQuality
SIO_000300: 5.937e1

DP
type: SiteQuality
SIO_000300: 2.005731e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.398e0

QD
type: SiteQuality
SIO_000300: 1.238e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.13e-1

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426172
ensembl transcript: ENST00000513689
gene symbol: CACNA1G
hgvsc: ENST00000513689.2:c.5171A>G
hgvsp: ENSP00000426172.2:p.Glu1724Gly
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427247
ensembl transcript: ENST00000511765
gene symbol: CACNA1G
hgvsc: ENST00000511765.1:c.5203A>G
hgvsp: ENSP00000427247.1:p.Ser1735Gly
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425451
ensembl transcript: ENST00000513964
gene symbol: CACNA1G
hgvsc: ENST00000513964.1:c.5171A>G
hgvsp: ENSP00000425451.1:p.Glu1724Gly
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427238
ensembl transcript: ENST00000503485
gene symbol: CACNA1G
hgvsc: ENST00000503485.1:c.5204A>G
hgvsp: ENSP00000427238.1:p.Glu1735Gly
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.5285A>G
hgvsp: ENSP00000423045.1:p.Glu1762Gly
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.5273A>G
hgvsp: ENSP00000421518.1:p.Glu1758Gly
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.5237A>G
hgvsp: ENSP00000425522.1:p.Glu1746Gly
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000420918
ensembl transcript: ENST00000507336
gene symbol: CACNA1G
hgvsc: ENST00000507336.1:c.5273A>G
hgvsp: ENSP00000420918.1:p.Glu1758Gly
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.5273A>G
hgvsp: ENSP00000426261.1:p.Glu1758Gly
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.5252A>G
hgvsp: ENSP00000423155.1:p.Glu1751Gly
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.5252A>G
hgvsp: ENSP00000414388.2:p.Glu1751Gly
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.5134A>G
hgvsp: ENSP00000426558.1:p.Ser1712Gly
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422268
ensembl transcript: ENST00000505165
gene symbol: CACNA1G
hgvsc: ENST00000505165.1:c.5306A>G
hgvsp: ENSP00000422268.1:p.Glu1769Gly
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000350979
ensembl transcript: ENST00000358244
gene symbol: CACNA1G
hgvsc: ENST00000358244.5:c.5204A>G
hgvsp: ENSP00000350979.5:p.Glu1735Gly
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 44
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16214
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7979
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 413
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 678
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3083
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5205
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 82
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1719
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 249
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9700
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 243
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13167
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1013
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20534
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10863
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2348
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4597
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5413
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8805
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4343
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2727
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66602
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.14e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

DP
type: SiteQuality
SIO_000300: 2.006047e6

QD
type: SiteQuality
SIO_000300: 1.146e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.93e-1

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.5151G>A
hgvsp: ENST00000510366.1:c.5151G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425153
ensembl transcript: ENST00000504076
gene symbol: CACNA1G
hgvsc: ENST00000504076.1:c.5225G>A
hgvsp: ENSP00000425153.1:p.Ser1742Asn
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000353990
ensembl transcript: ENST00000360761
gene symbol: CACNA1G
hgvsc: ENST00000360761.4:c.5238G>A
hgvsp: ENST00000360761.4:c.5238G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.5253G>A
hgvsp: ENST00000429973.2:c.5253G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.5274G>A
hgvsp: ENST00000507896.1:c.5274G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000350979
ensembl transcript: ENST00000358244
gene symbol: CACNA1G
hgvsc: ENST00000358244.5:c.5205G>A
hgvsp: ENST00000358244.5:c.5205G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.5274G>A
hgvsp: ENST00000512389.1:c.5274G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.5328G>A
hgvsp: ENST00000514079.1:c.5328G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.5274G>A
hgvsp: ENST00000515765.1:c.5274G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.5307G>A
hgvsp: ENST00000359106.5:c.5307G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.5286G>A
hgvsp: ENST00000507609.1:c.5286G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000409759
ensembl transcript: ENST00000442258
gene symbol: CACNA1G
hgvsc: ENST00000442258.2:c.5184G>A
hgvsp: ENST00000442258.2:c.5184G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426098
ensembl transcript: ENST00000515165
gene symbol: CACNA1G
hgvsc: ENST00000515165.1:c.5307G>A
hgvsp: ENST00000515165.1:c.5307G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.5253G>A
hgvsp: ENST00000515411.1:c.5253G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 80
bin: 8.25e1
variant carriers: 5

GenotypeDepth
all individuals: 1730
bin: 5.25e1
variant carriers: 11

GenotypeDepth
all individuals: 244
bin: 1.75e1
variant carriers: 3

GenotypeDepth
all individuals: 685
bin: 6.25e1
variant carriers: 8

GenotypeDepth
all individuals: 109
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9681
bin: 2.25e1
variant carriers: 5

GenotypeDepth
all individuals: 3088
bin: 4.75e1
variant carriers: 6

GenotypeDepth
all individuals: 1017
bin: 5.75e1
variant carriers: 5

GenotypeDepth
all individuals: 13150
bin: 3.25e1
variant carriers: 12

GenotypeDepth
all individuals: 7959
bin: 3.75e1
variant carriers: 6

GenotypeDepth
all individuals: 5207
bin: 4.25e1
variant carriers: 16

GenotypeDepth
all individuals: 255
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 55
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 9.75e1
variant carriers: 8

GenotypeDepth
all individuals: 56
bin: 8.75e1
variant carriers: 12

GenotypeDepth
all individuals: 250
bin: 7.25e1
variant carriers: 7

GenotypeDepth
all individuals: 16203
bin: 2.75e1
variant carriers: 11

GenotypeDepth
all individuals: 134
bin: 7.75e1
variant carriers: 7

GenotypeDepth
all individuals: 27
bin: 9.25e1
variant carriers: 2

GenotypeDepth
all individuals: 422
bin: 6.75e1
variant carriers: 9

GenotypeQuality
all individuals: 106
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20534
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4583
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4330
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10981
bin: 9.75e1
variant carriers: 134

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

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

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8788
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2341
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5397
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2722
bin: 9.25e1
variant carriers: 1

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

South Asian
type: Population
allele count: 134
allele frequency: 8.146887159533074e-3
allele num: 16448
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002732486562772e-5
allele num: 66606
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.854e0

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.64e-2

FS
type: SiteQuality
SIO_000300: 1.18e0

VQSLOD
type: SiteQuality
SIO_000300: 3.53e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.93e-1

QD
type: SiteQuality
SIO_000300: 1.37e1

DP
type: SiteQuality
SIO_000300: 2.009624e6

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422407
ensembl transcript: ENST00000514717
gene symbol: CACNA1G
hgvsc: ENST00000514717.1:c.5142C>T
hgvsp: ENST00000514717.1:c.5142C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.5211C>T
hgvsp: ENST00000510115.1:c.5211C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425451
ensembl transcript: ENST00000513964
gene symbol: CACNA1G
hgvsc: ENST00000513964.1:c.5178C>T
hgvsp: ENST00000513964.1:c.5178C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426098
ensembl transcript: ENST00000515165
gene symbol: CACNA1G
hgvsc: ENST00000515165.1:c.5313C>T
hgvsp: ENST00000515165.1:c.5313C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000350979
ensembl transcript: ENST00000358244
gene symbol: CACNA1G
hgvsc: ENST00000358244.5:c.5211C>T
hgvsp: ENST00000358244.5:c.5211C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.5280C>T
hgvsp: ENST00000515765.1:c.5280C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.5292C>T
hgvsp: ENST00000507609.1:c.5292C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000339302
ensembl transcript: ENST00000352832
gene symbol: CACNA1G
hgvsc: ENST00000352832.5:c.5211C>T
hgvsp: ENST00000352832.5:c.5211C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427238
ensembl transcript: ENST00000503485
gene symbol: CACNA1G
hgvsc: ENST00000503485.1:c.5211C>T
hgvsp: ENST00000503485.1:c.5211C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000420918
ensembl transcript: ENST00000507336
gene symbol: CACNA1G
hgvsc: ENST00000507336.1:c.5280C>T
hgvsp: ENST00000507336.1:c.5280C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.5259C>T
hgvsp: ENST00000429973.2:c.5259C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000409759
ensembl transcript: ENST00000442258
gene symbol: CACNA1G
hgvsc: ENST00000442258.2:c.5190C>T
hgvsp: ENST00000442258.2:c.5190C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.5313C>T
hgvsp: ENST00000359106.5:c.5313C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 16260
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 687
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 422
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9696
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 249
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5196
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 196
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 135
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13175
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1722
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1016
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3089
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7961
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8801
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5404
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4338
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2724
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10921
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2343
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4587
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20599
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

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

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

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: 11568
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.02124183006536e-4
allele num: 9792
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501231009427731e-5
allele num: 66612
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.607e-1

MQ
type: SiteQuality
SIO_000300: 5.896e1

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-3

DP
type: SiteQuality
SIO_000300: 2.01042e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

FS
type: SiteQuality
SIO_000300: 1.438e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e-2

QD
type: SiteQuality
SIO_000300: 9.98e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.129e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.99e0

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000339302
ensembl transcript: ENST00000352832
gene symbol: CACNA1G
hgvsc: ENST00000352832.5:c.5214G>A
hgvsp: ENST00000352832.5:c.5214G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426098
ensembl transcript: ENST00000515165
gene symbol: CACNA1G
hgvsc: ENST00000515165.1:c.5316G>A
hgvsp: ENST00000515165.1:c.5316G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423112
ensembl transcript: ENST00000507510
gene symbol: CACNA1G
hgvsc: ENST00000507510.2:c.5316G>A
hgvsp: ENST00000507510.2:c.5316G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.5214G>A
hgvsp: ENST00000510115.1:c.5214G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425698
ensembl transcript: ENST00000514181
gene symbol: CACNA1G
hgvsc: ENST00000514181.1:c.5241G>A
hgvsp: ENST00000514181.1:c.5241G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.5262G>A
hgvsp: ENST00000515411.1:c.5262G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000353990
ensembl transcript: ENST00000360761
gene symbol: CACNA1G
hgvsc: ENST00000360761.4:c.5247G>A
hgvsp: ENST00000360761.4:c.5247G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000350979
ensembl transcript: ENST00000358244
gene symbol: CACNA1G
hgvsc: ENST00000358244.5:c.5214G>A
hgvsp: ENST00000358244.5:c.5214G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425451
ensembl transcript: ENST00000513964
gene symbol: CACNA1G
hgvsc: ENST00000513964.1:c.5181G>A
hgvsp: ENST00000513964.1:c.5181G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000347078
ensembl transcript: ENST00000354983
gene symbol: CACNA1G
hgvsc: ENST00000354983.4:c.5214G>A
hgvsp: ENST00000354983.4:c.5214G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.5283G>A
hgvsp: ENST00000512389.1:c.5283G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.5316G>A
hgvsp: ENST00000359106.5:c.5316G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.5283G>A
hgvsp: ENST00000515765.1:c.5283G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 161
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16289
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5194
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 28
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13171
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3088
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 135
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 687
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1722
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 57
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1015
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7956
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 249
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9742
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 424
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 91
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4596
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4336
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10926
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 179
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20698
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5412
bin: 7.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2725
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8807
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2343
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66628
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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: 11570
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.075334143377886e-5
allele num: 16460
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.010921e6

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.235e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.332e1

VQSLOD
type: SiteQuality
SIO_000300: 7.92e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426098
ensembl transcript: ENST00000515165
gene symbol: CACNA1G
hgvsc: ENST00000515165.1:c.5316G>C
hgvsp: ENSP00000426098.1:p.Glu1772Asp
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426814
ensembl transcript: ENST00000510366
gene symbol: CACNA1G
hgvsc: ENST00000510366.1:c.5160G>C
hgvsp: ENSP00000426814.1:p.Glu1720Asp
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425698
ensembl transcript: ENST00000514181
gene symbol: CACNA1G
hgvsc: ENST00000514181.1:c.5241G>C
hgvsp: ENSP00000425698.1:p.Glu1747Asp
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.5295G>C
hgvsp: ENSP00000423045.1:p.Glu1765Asp
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.5247G>C
hgvsp: ENSP00000425522.1:p.Glu1749Asp
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.5283G>C
hgvsp: ENSP00000426261.1:p.Glu1761Asp
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.5283G>C
hgvsp: ENSP00000426232.1:p.Glu1761Asp
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000421518
ensembl transcript: ENST00000507896
gene symbol: CACNA1G
hgvsc: ENST00000507896.1:c.5283G>C
hgvsp: ENSP00000421518.1:p.Glu1761Asp
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000339302
ensembl transcript: ENST00000352832
gene symbol: CACNA1G
hgvsc: ENST00000352832.5:c.5214G>C
hgvsp: ENSP00000339302.5:p.Glu1738Asp
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426172
ensembl transcript: ENST00000513689
gene symbol: CACNA1G
hgvsc: ENST00000513689.2:c.5181G>C
hgvsp: ENSP00000426172.2:p.Glu1727Asp
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426558
ensembl transcript: ENST00000503607
gene symbol: CACNA1G
hgvsc: ENST00000503607.1:c.5144G>C
hgvsp: ENSP00000426558.1:p.Arg1715Thr
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000347078
ensembl transcript: ENST00000354983
gene symbol: CACNA1G
hgvsc: ENST00000354983.4:c.5214G>C
hgvsp: ENSP00000347078.4:p.Glu1738Asp
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 57
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 687
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1015
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 249
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7956
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16289
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 93
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 424
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5194
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3088
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 135
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1722
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9742
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13171
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20698
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 70
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2725
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 89
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2343
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4596
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8807
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10926
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4336
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5412
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66628
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: 16460
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
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: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 7.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.235e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.332e1

DP
type: SiteQuality
SIO_000300: 2.010921e6

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000352011
ensembl transcript: ENST00000359106
gene symbol: CACNA1G
hgvsc: ENST00000359106.5:c.5325C>T
hgvsp: ENST00000359106.5:c.5325C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426313
ensembl transcript: ENST00000506406
gene symbol: CACNA1G
hgvsc: ENST00000506406.1:c.5276C>T
hgvsp: ENSP00000426313.1:p.Pro1759Leu
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000353990
ensembl transcript: ENST00000360761
gene symbol: CACNA1G
hgvsc: ENST00000360761.4:c.5256C>T
hgvsp: ENST00000360761.4:c.5256C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426098
ensembl transcript: ENST00000515165
gene symbol: CACNA1G
hgvsc: ENST00000515165.1:c.5325C>T
hgvsp: ENST00000515165.1:c.5325C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.5223C>T
hgvsp: ENST00000510115.1:c.5223C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.5256C>T
hgvsp: ENST00000502264.1:c.5256C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000339302
ensembl transcript: ENST00000352832
gene symbol: CACNA1G
hgvsc: ENST00000352832.5:c.5223C>T
hgvsp: ENST00000352832.5:c.5223C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.5292C>T
hgvsp: ENST00000515765.1:c.5292C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427238
ensembl transcript: ENST00000503485
gene symbol: CACNA1G
hgvsc: ENST00000503485.1:c.5223C>T
hgvsp: ENST00000503485.1:c.5223C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.5271C>T
hgvsp: ENST00000429973.2:c.5271C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425698
ensembl transcript: ENST00000514181
gene symbol: CACNA1G
hgvsc: ENST00000514181.1:c.5250C>T
hgvsp: ENST00000514181.1:c.5250C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426261
ensembl transcript: ENST00000512389
gene symbol: CACNA1G
hgvsc: ENST00000512389.1:c.5292C>T
hgvsp: ENST00000512389.1:c.5292C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 424
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 16359
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1723
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3088
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9737
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 249
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13174
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5195
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 81
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1016
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 135
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 133
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7956
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 687
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 91
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 81
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10929
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 143
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4338
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 20694
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4598
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2727
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2343
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5415
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8808
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.755e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.75e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

VQSLOD
type: SiteQuality
SIO_000300: 2.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.32e-1

FS
type: SiteQuality
SIO_000300: 6.456e0

QD
type: SiteQuality
SIO_000300: 1.193e1

DP
type: SiteQuality
SIO_000300: 2.012203e6

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427238
ensembl transcript: ENST00000503485
gene symbol: CACNA1G
hgvsc: ENST00000503485.1:c.5235G>A
hgvsp: ENST00000503485.1:c.5235G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000414388
ensembl transcript: ENST00000429973
gene symbol: CACNA1G
hgvsc: ENST00000429973.2:c.5283G>A
hgvsp: ENST00000429973.2:c.5283G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425522
ensembl transcript: ENST00000502264
gene symbol: CACNA1G
hgvsc: ENST00000502264.1:c.5268G>A
hgvsp: ENST00000502264.1:c.5268G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423045
ensembl transcript: ENST00000507609
gene symbol: CACNA1G
hgvsc: ENST00000507609.1:c.5316G>A
hgvsp: ENST00000507609.1:c.5316G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423155
ensembl transcript: ENST00000515411
gene symbol: CACNA1G
hgvsc: ENST00000515411.1:c.5283G>A
hgvsp: ENST00000515411.1:c.5283G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000427173
ensembl transcript: ENST00000510115
gene symbol: CACNA1G
hgvsc: ENST00000510115.1:c.5235G>A
hgvsp: ENST00000510115.1:c.5235G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000423317
ensembl transcript: ENST00000514079
gene symbol: CACNA1G
hgvsc: ENST00000514079.1:c.5358G>A
hgvsp: ENST00000514079.1:c.5358G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426232
ensembl transcript: ENST00000515765
gene symbol: CACNA1G
hgvsc: ENST00000515765.1:c.5304G>A
hgvsp: ENST00000515765.1:c.5304G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000422407
ensembl transcript: ENST00000514717
gene symbol: CACNA1G
hgvsc: ENST00000514717.1:c.5166G>A
hgvsp: ENST00000514717.1:c.5166G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000339302
ensembl transcript: ENST00000352832
gene symbol: CACNA1G
hgvsc: ENST00000352832.5:c.5235G>A
hgvsp: ENST00000352832.5:c.5235G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000426098
ensembl transcript: ENST00000515165
gene symbol: CACNA1G
hgvsc: ENST00000515165.1:c.5337G>A
hgvsp: ENST00000515165.1:c.5337G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000006283
ensembl protein: ENSP00000425698
ensembl transcript: ENST00000514181
gene symbol: CACNA1G
hgvsc: ENST00000514181.1:c.5262G>A
hgvsp: ENST00000514181.1:c.5262G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1394

GenotypeDepth
all individuals: 687
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16397
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1017
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1724
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13184
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 9778
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 249
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 136
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7954
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 424
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3088
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5196
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4342
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20839
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 36
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4606
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2341
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 53
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2728
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8816
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10934
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 5419
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
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: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.601e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 2.735e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.47e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

DP
type: SiteQuality
SIO_000300: 2.013599e6

QD
type: SiteQuality
SIO_000300: 1.446e1